SNP Links for Protein (Select 1004170681) - SNP - NCBI

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Links from Protein

Items: 1 to 20 of 594

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Select item 14895838641.

rs1489583864 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:25427562 (GRCh38)
2:25650431 (GRCh37)
Canonical SPDI:: NC_000002.12:25427561:C:G,NC_000002.12:25427561:C:T
Gene:: DTNB (Varview), DTNB-AS1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000094/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.25427562C>G, NC_000002.12:g.25427562C>T, NC_000002.11:g.25650431C>G, NC_000002.11:g.25650431C>T, NM_021907.5:c.1527G>C, NM_021907.5:c.1527G>A, NM_021907.4:c.1527G>C, NM_021907.4:c.1527G>A, NM_033147.4:c.1527G>C, NM_033147.4:c.1527G>A, NM_033147.3:c.1527G>C, NM_033147.3:c.1527G>A, NM_033148.4:c.1437G>C, NM_033148.4:c.1437G>A, NM_033148.3:c.1437G>C, NM_033148.3:c.1437G>A, XR_244976.4:n.300C>G, XR_244976.4:n.300C>T, XR_244976.3:n.301C>G, XR_244976.3:n.301C>T, XR_427012.4:n.210C>G, XR_427012.4:n.210C>T, XR_427012.3:n.230C>G, XR_427012.3:n.230C>T, NM_183360.3:c.1527G>C, NM_183360.3:c.1527G>A, NM_183360.2:c.1527G>C, NM_183360.2:c.1527G>A, NM_001256304.3:c.1527G>C, NM_001256304.3:c.1527G>A, NM_001256304.2:c.1527G>C, NM_001256304.2:c.1527G>A, NM_001256304.1:c.1527G>C, NM_001256304.1:c.1527G>A, NM_183361.3:c.1437G>C, NM_183361.3:c.1437G>A, NM_183361.2:c.1437G>C, NM_183361.2:c.1437G>A, XR_939844.3:n.430C>G, XR_939844.3:n.430C>T, XR_939844.2:n.413C>G, XR_939844.2:n.413C>T, NM_001351395.2:c.612G>C, NM_001351395.2:c.612G>A, NM_001351395.1:c.612G>C, NM_001351395.1:c.612G>A, NM_001351389.2:c.1437G>C, NM_001351389.2:c.1437G>A, NM_001351389.1:c.1437G>C, NM_001351389.1:c.1437G>A, NM_001320936.2:c.1527G>C, NM_001320936.2:c.1527G>A, NM_001320936.1:c.1527G>C, NM_001320936.1:c.1527G>A, NR_147180.2:n.1630G>C, NR_147180.2:n.1630G>A, NR_147180.1:n.1700G>C, NR_147180.1:n.1700G>A, NM_001256303.2:c.1527G>C, NM_001256303.2:c.1527G>A, NM_001256303.1:c.1527G>C, NM_001256303.1:c.1527G>A, NM_001320934.2:c.1437G>C, NM_001320934.2:c.1437G>A, NM_001320934.1:c.1437G>C, NM_001320934.1:c.1437G>A, NM_001320933.2:c.1437G>C, NM_001320933.2:c.1437G>A, NM_001320933.1:c.1437G>C, NM_001320933.1:c.1437G>A, NM_001351387.2:c.1455G>C, NM_001351387.2:c.1455G>A, NM_001351387.1:c.1455G>C, NM_001351387.1:c.1455G>A, NM_001256308.2:c.1356G>C, NM_001256308.2:c.1356G>A, NM_001256308.1:c.1356G>C, NM_001256308.1:c.1356G>A, NM_001351388.2:c.1527G>C, NM_001351388.2:c.1527G>A, NM_001351388.1:c.1527G>C, NM_001351388.1:c.1527G>A, NM_001351382.2:c.1437G>C, NM_001351382.2:c.1437G>A, NM_001351382.1:c.1437G>C, NM_001351382.1:c.1437G>A, NM_001351385.2:c.1455G>C, NM_001351385.2:c.1455G>A, NM_001351385.1:c.1455G>C, NM_001351385.1:c.1455G>A, NM_001351383.2:c.1455G>C, NM_001351383.2:c.1455G>A, NM_001351383.1:c.1455G>C, NM_001351383.1:c.1455G>A, NM_001351386.2:c.1437G>C, NM_001351386.2:c.1437G>A, NM_001351386.1:c.1437G>C, NM_001351386.1:c.1437G>A, NM_001351384.2:c.1527G>C, NM_001351384.2:c.1527G>A, NM_001351384.1:c.1527G>C, NM_001351384.1:c.1527G>A, NM_001351381.2:c.996G>C, NM_001351381.2:c.996G>A, NM_001351381.1:c.996G>C, NM_001351381.1:c.996G>A, NM_001351392.2:c.996G>C, NM_001351392.2:c.996G>A, NM_001351392.1:c.996G>C, NM_001351392.1:c.996G>A, NM_001320932.2:c.915G>C, NM_001320932.2:c.915G>A, NM_001320932.1:c.915G>C, NM_001320932.1:c.915G>A, NM_001351390.2:c.1437G>C, NM_001351390.2:c.1437G>A, NM_001351390.1:c.1437G>C, NM_001351390.1:c.1437G>A, NM_001320935.2:c.915G>C, NM_001320935.2:c.915G>A, NM_001320935.1:c.915G>C, NM_001320935.1:c.915G>A, NM_001351393.2:c.996G>C, NM_001351393.2:c.996G>A, NM_001351393.1:c.996G>C, NM_001351393.1:c.996G>A, NM_001351391.2:c.1437G>C, NM_001351391.2:c.1437G>A, NM_001351391.1:c.1437G>C, NM_001351391.1:c.1437G>A, NM_001351394.2:c.1527G>C, NM_001351394.2:c.1527G>A, NM_001351394.1:c.1527G>C, NM_001351394.1:c.1527G>A, NM_001394686.1:c.1086G>C, NM_001394686.1:c.1086G>A, NP_068707.1:p.Gln509His, NP_149159.2:p.Gln509His, NP_149160.1:p.Gln479His, NP_899204.1:p.Gln509His, NP_001243233.1:p.Gln509His, NP_899205.1:p.Gln479His, NP_001338324.1:p.Gln204His, NP_001338318.1:p.Gln479His, NP_001307865.1:p.Gln509His, NP_001243232.1:p.Gln509His, NP_001307863.1:p.Gln479His, NP_001307862.1:p.Gln479His, NP_001338316.1:p.Gln485His, NP_001243237.1:p.Gln452His, NP_001338317.1:p.Gln509His, NP_001338311.1:p.Gln479His, NP_001338314.1:p.Gln485His, NP_001338312.1:p.Gln485His, NP_001338315.1:p.Gln479His, NP_001338313.1:p.Gln509His, NP_001338310.1:p.Gln332His, NP_001338321.1:p.Gln332His, NP_001307861.1:p.Gln305His, NP_001338319.1:p.Gln479His, NP_001307864.1:p.Gln305His, NP_001338322.1:p.Gln332His, NP_001338320.1:p.Gln479His, NP_001338323.1:p.Gln509His, NP_001381615.1:p.Gln362His

Select item 14894391272.

rs1489439127 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:25383859 (GRCh38)
2:25606728 (GRCh37)
Canonical SPDI:: NC_000002.12:25383858:T:C
Gene:: DTNB (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.25383859T>C, NC_000002.11:g.25606728T>C, NM_021907.5:c.1856A>G, NM_021907.4:c.1856A>G, NM_033147.4:c.1766A>G, NM_033147.3:c.1766A>G, NM_033148.4:c.1676A>G, NM_033148.3:c.1676A>G, NM_183361.3:c.1655A>G, NM_183361.2:c.1655A>G, NM_001351395.2:c.920A>G, NM_001351395.1:c.920A>G, NR_147180.2:n.2045A>G, NR_147180.1:n.2115A>G, NM_001256303.2:c.1835A>G, NM_001256303.1:c.1835A>G, NM_001320934.2:c.1766A>G, NM_001320934.1:c.1766A>G, NM_001320933.2:c.1745A>G, NM_001320933.1:c.1745A>G, NM_001351383.2:c.1694A>G, NM_001351383.1:c.1694A>G, NM_001351381.2:c.1325A>G, NM_001351381.1:c.1325A>G, NM_001320935.2:c.1223A>G, NM_001320935.1:c.1223A>G, NM_001351393.2:c.1235A>G, NM_001351393.1:c.1235A>G, NP_068707.1:p.Lys619Arg, NP_149159.2:p.Lys589Arg, NP_149160.1:p.Lys559Arg, NP_899205.1:p.Lys552Arg, NP_001338324.1:p.Lys307Arg, NP_001243232.1:p.Lys612Arg, NP_001307863.1:p.Lys589Arg, NP_001307862.1:p.Lys582Arg, NP_001338312.1:p.Lys565Arg, NP_001338310.1:p.Lys442Arg, NP_001307864.1:p.Lys408Arg, NP_001338322.1:p.Lys412Arg

Select item 14893453143.

rs1489345314 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:25652650 (GRCh38)
2:25875519 (GRCh37)
Canonical SPDI:: NC_000002.12:25652649:T:A
Gene:: DTNB (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.25652650T>A, NC_000002.11:g.25875519T>A, NM_021907.5:c.11A>T, NM_021907.4:c.11A>T, NM_033147.4:c.11A>T, NM_033147.3:c.11A>T, NM_033148.4:c.11A>T, NM_033148.3:c.11A>T, NM_183360.3:c.11A>T, NM_183360.2:c.11A>T, NM_001256304.3:c.11A>T, NM_001256304.2:c.11A>T, NM_001256304.1:c.11A>T, NM_183361.3:c.11A>T, NM_183361.2:c.11A>T, NM_001351395.2:c.-2273A>T, NM_001351395.1:c.-2273A>T, NM_001351389.2:c.11A>T, NM_001351389.1:c.11A>T, NM_001320936.2:c.11A>T, NM_001320936.1:c.11A>T, NR_147180.2:n.204A>T, NR_147180.1:n.274A>T, NM_001256303.2:c.11A>T, NM_001256303.1:c.11A>T, NM_001320934.2:c.11A>T, NM_001320934.1:c.11A>T, NM_001320933.2:c.11A>T, NM_001320933.1:c.11A>T, NM_001351387.2:c.11A>T, NM_001351387.1:c.11A>T, NM_001351388.2:c.11A>T, NM_001351388.1:c.11A>T, NM_001351382.2:c.11A>T, NM_001351382.1:c.11A>T, NM_001351385.2:c.11A>T, NM_001351385.1:c.11A>T, NM_001351383.2:c.11A>T, NM_001351383.1:c.11A>T, NM_001351386.2:c.11A>T, NM_001351386.1:c.11A>T, NM_001351384.2:c.11A>T, NM_001351384.1:c.11A>T, NM_001351381.2:c.-345A>T, NM_001351381.1:c.-345A>T, NM_001351392.2:c.-345A>T, NM_001351392.1:c.-345A>T, NM_001320932.2:c.-447A>T, NM_001320932.1:c.-447A>T, NM_001351390.2:c.11A>T, NM_001351390.1:c.11A>T, NM_001320935.2:c.-361A>T, NM_001320935.1:c.-361A>T, NM_001351393.2:c.-345A>T, NM_001351393.1:c.-345A>T, NM_001351391.2:c.11A>T, NM_001351391.1:c.11A>T, NM_001351394.2:c.11A>T, NM_001351394.1:c.11A>T, NM_001320937.2:c.11A>T, NM_001320937.1:c.11A>T, NM_001394686.1:c.-345A>T, NP_068707.1:p.Glu4Val, NP_149159.2:p.Glu4Val, NP_149160.1:p.Glu4Val, NP_899204.1:p.Glu4Val, NP_001243233.1:p.Glu4Val, NP_899205.1:p.Glu4Val, NP_001338318.1:p.Glu4Val, NP_001307865.1:p.Glu4Val, NP_001243232.1:p.Glu4Val, NP_001307863.1:p.Glu4Val, NP_001307862.1:p.Glu4Val, NP_001338316.1:p.Glu4Val, NP_001338317.1:p.Glu4Val, NP_001338311.1:p.Glu4Val, NP_001338314.1:p.Glu4Val, NP_001338312.1:p.Glu4Val, NP_001338315.1:p.Glu4Val, NP_001338313.1:p.Glu4Val, NP_001338319.1:p.Glu4Val, NP_001338320.1:p.Glu4Val, NP_001338323.1:p.Glu4Val, NP_001307866.1:p.Glu4Val

Select item 14876014834.

rs1487601483 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:25388222 (GRCh38)
2:25611091 (GRCh37)
Canonical SPDI:: NC_000002.12:25388221:A:T
Gene:: DTNB (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.25388222A>T, NC_000002.11:g.25611091A>T, NM_021907.5:c.1715T>A, NM_021907.4:c.1715T>A, NM_033147.4:c.1715T>A, NM_033147.3:c.1715T>A, NM_033148.4:c.1625T>A, NM_033148.3:c.1625T>A, NM_183360.3:c.1715T>A, NM_183360.2:c.1715T>A, NM_001256304.3:c.1694T>A, NM_001256304.2:c.1694T>A, NM_001256304.1:c.1694T>A, NM_183361.3:c.1604T>A, NM_183361.2:c.1604T>A, NM_001351395.2:c.779T>A, NM_001351395.1:c.779T>A, NM_001320936.2:c.1715T>A, NM_001320936.1:c.1715T>A, NR_147180.2:n.1818T>A, NR_147180.1:n.1888T>A, NM_001256303.2:c.1694T>A, NM_001256303.1:c.1694T>A, NM_001320934.2:c.1625T>A, NM_001320934.1:c.1625T>A, NM_001320933.2:c.1604T>A, NM_001320933.1:c.1604T>A, NM_001351387.2:c.1643T>A, NM_001351387.1:c.1643T>A, NM_001256308.2:c.1523T>A, NM_001256308.1:c.1523T>A, NM_001351388.2:c.1715T>A, NM_001351388.1:c.1715T>A, NM_001351382.2:c.1625T>A, NM_001351382.1:c.1625T>A, NM_001351385.2:c.1622T>A, NM_001351385.1:c.1622T>A, NM_001351383.2:c.1643T>A, NM_001351383.1:c.1643T>A, NM_001351386.2:c.1604T>A, NM_001351386.1:c.1604T>A, NM_001351384.2:c.1694T>A, NM_001351384.1:c.1694T>A, NM_001351381.2:c.1184T>A, NM_001351381.1:c.1184T>A, NM_001351392.2:c.1184T>A, NM_001351392.1:c.1184T>A, NM_001320932.2:c.1082T>A, NM_001320932.1:c.1082T>A, NM_001351390.2:c.1625T>A, NM_001351390.1:c.1625T>A, NM_001320935.2:c.1082T>A, NM_001320935.1:c.1082T>A, NM_001351393.2:c.1184T>A, NM_001351393.1:c.1184T>A, NM_001351391.2:c.1604T>A, NM_001351391.1:c.1604T>A, NM_001394686.1:c.1253T>A, NP_068707.1:p.Val572Glu, NP_149159.2:p.Val572Glu, NP_149160.1:p.Val542Glu, NP_899204.1:p.Val572Glu, NP_001243233.1:p.Val565Glu, NP_899205.1:p.Val535Glu, NP_001338324.1:p.Val260Glu, NP_001307865.1:p.Val572Glu, NP_001243232.1:p.Val565Glu, NP_001307863.1:p.Val542Glu, NP_001307862.1:p.Val535Glu, NP_001338316.1:p.Val548Glu, NP_001243237.1:p.Val508Glu, NP_001338317.1:p.Val572Glu, NP_001338311.1:p.Val542Glu, NP_001338314.1:p.Val541Glu, NP_001338312.1:p.Val548Glu, NP_001338315.1:p.Val535Glu, NP_001338313.1:p.Val565Glu, NP_001338310.1:p.Val395Glu, NP_001338321.1:p.Val395Glu, NP_001307861.1:p.Val361Glu, NP_001338319.1:p.Val542Glu, NP_001307864.1:p.Val361Glu, NP_001338322.1:p.Val395Glu, NP_001338320.1:p.Val535Glu, NP_001381615.1:p.Val418Glu

Select item 14831008375.

rs1483100837 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:25576959 (GRCh38)
2:25799828 (GRCh37)
Canonical SPDI:: NC_000002.12:25576958:A:C
Gene:: DTNB (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.25576959A>C, NC_000002.11:g.25799828A>C, NM_021907.5:c.755T>G, NM_021907.4:c.755T>G, NM_033147.4:c.755T>G, NM_033147.3:c.755T>G, NM_033148.4:c.755T>G, NM_033148.3:c.755T>G, NM_183360.3:c.755T>G, NM_183360.2:c.755T>G, NM_001256304.3:c.755T>G, NM_001256304.2:c.755T>G, NM_001256304.1:c.755T>G, NM_183361.3:c.755T>G, NM_183361.2:c.755T>G, NM_001351395.2:c.-1529T>G, NM_001351395.1:c.-1529T>G, NM_001351389.2:c.755T>G, NM_001351389.1:c.755T>G, NM_001320936.2:c.755T>G, NM_001320936.1:c.755T>G, NR_147180.2:n.948T>G, NR_147180.1:n.1018T>G, NM_001256303.2:c.755T>G, NM_001256303.1:c.755T>G, NM_001320934.2:c.755T>G, NM_001320934.1:c.755T>G, NM_001320933.2:c.755T>G, NM_001320933.1:c.755T>G, NM_001351387.2:c.755T>G, NM_001351387.1:c.755T>G, NM_001256308.2:c.584T>G, NM_001256308.1:c.584T>G, NM_001351388.2:c.755T>G, NM_001351388.1:c.755T>G, NM_001351382.2:c.755T>G, NM_001351382.1:c.755T>G, NM_001351385.2:c.755T>G, NM_001351385.1:c.755T>G, NM_001351383.2:c.755T>G, NM_001351383.1:c.755T>G, NM_001351386.2:c.755T>G, NM_001351386.1:c.755T>G, NM_001351384.2:c.755T>G, NM_001351384.1:c.755T>G, NM_001351381.2:c.314T>G, NM_001351381.1:c.314T>G, NM_001351392.2:c.314T>G, NM_001351392.1:c.314T>G, NM_001320932.2:c.143T>G, NM_001320932.1:c.143T>G, NM_001351390.2:c.755T>G, NM_001351390.1:c.755T>G, NM_001320935.2:c.143T>G, NM_001320935.1:c.143T>G, NM_001351393.2:c.314T>G, NM_001351393.1:c.314T>G, NM_001351391.2:c.755T>G, NM_001351391.1:c.755T>G, NM_001351394.2:c.755T>G, NM_001351394.1:c.755T>G, NM_001320937.2:c.755T>G, NM_001320937.1:c.755T>G, NM_001394686.1:c.314T>G, NP_068707.1:p.Met252Arg, NP_149159.2:p.Met252Arg, NP_149160.1:p.Met252Arg, NP_899204.1:p.Met252Arg, NP_001243233.1:p.Met252Arg, NP_899205.1:p.Met252Arg, NP_001338318.1:p.Met252Arg, NP_001307865.1:p.Met252Arg, NP_001243232.1:p.Met252Arg, NP_001307863.1:p.Met252Arg, NP_001307862.1:p.Met252Arg, NP_001338316.1:p.Met252Arg, NP_001243237.1:p.Met195Arg, NP_001338317.1:p.Met252Arg, NP_001338311.1:p.Met252Arg, NP_001338314.1:p.Met252Arg, NP_001338312.1:p.Met252Arg, NP_001338315.1:p.Met252Arg, NP_001338313.1:p.Met252Arg, NP_001338310.1:p.Met105Arg, NP_001338321.1:p.Met105Arg, NP_001307861.1:p.Met48Arg, NP_001338319.1:p.Met252Arg, NP_001307864.1:p.Met48Arg, NP_001338322.1:p.Met105Arg, NP_001338320.1:p.Met252Arg, NP_001338323.1:p.Met252Arg, NP_001307866.1:p.Met252Arg, NP_001381615.1:p.Met105Arg

Select item 14798648756.

rs1479864875 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:25628220 (GRCh38)
2:25851089 (GRCh37)
Canonical SPDI:: NC_000002.12:25628219:C:T
Gene:: DTNB (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.25628220C>T, NC_000002.11:g.25851089C>T, NM_021907.5:c.313G>A, NM_021907.4:c.313G>A, NM_033147.4:c.313G>A, NM_033147.3:c.313G>A, NM_033148.4:c.313G>A, NM_033148.3:c.313G>A, NM_183360.3:c.313G>A, NM_183360.2:c.313G>A, NM_001256304.3:c.313G>A, NM_001256304.2:c.313G>A, NM_001256304.1:c.313G>A, NM_183361.3:c.313G>A, NM_183361.2:c.313G>A, NM_001351395.2:c.-1971G>A, NM_001351395.1:c.-1971G>A, NM_001351389.2:c.313G>A, NM_001351389.1:c.313G>A, NM_001320936.2:c.313G>A, NM_001320936.1:c.313G>A, NR_147180.2:n.506G>A, NR_147180.1:n.576G>A, NM_001256303.2:c.313G>A, NM_001256303.1:c.313G>A, NM_001320934.2:c.313G>A, NM_001320934.1:c.313G>A, NM_001320933.2:c.313G>A, NM_001320933.1:c.313G>A, NM_001351387.2:c.313G>A, NM_001351387.1:c.313G>A, NM_001256308.2:c.142G>A, NM_001256308.1:c.142G>A, NM_001351388.2:c.313G>A, NM_001351388.1:c.313G>A, NM_001351382.2:c.313G>A, NM_001351382.1:c.313G>A, NM_001351385.2:c.313G>A, NM_001351385.1:c.313G>A, NM_001351383.2:c.313G>A, NM_001351383.1:c.313G>A, NM_001351386.2:c.313G>A, NM_001351386.1:c.313G>A, NM_001351384.2:c.313G>A, NM_001351384.1:c.313G>A, NM_001351381.2:c.-43G>A, NM_001351381.1:c.-43G>A, NM_001351392.2:c.-43G>A, NM_001351392.1:c.-43G>A, NM_001320932.2:c.-145G>A, NM_001320932.1:c.-145G>A, NM_001351390.2:c.313G>A, NM_001351390.1:c.313G>A, NM_001320935.2:c.-59G>A, NM_001320935.1:c.-59G>A, NM_001351393.2:c.-43G>A, NM_001351393.1:c.-43G>A, NM_001351391.2:c.313G>A, NM_001351391.1:c.313G>A, NM_001351394.2:c.313G>A, NM_001351394.1:c.313G>A, NM_001320937.2:c.313G>A, NM_001320937.1:c.313G>A, NM_001394686.1:c.-43G>A, NP_068707.1:p.Glu105Lys, NP_149159.2:p.Glu105Lys, NP_149160.1:p.Glu105Lys, NP_899204.1:p.Glu105Lys, NP_001243233.1:p.Glu105Lys, NP_899205.1:p.Glu105Lys, NP_001338318.1:p.Glu105Lys, NP_001307865.1:p.Glu105Lys, NP_001243232.1:p.Glu105Lys, NP_001307863.1:p.Glu105Lys, NP_001307862.1:p.Glu105Lys, NP_001338316.1:p.Glu105Lys, NP_001243237.1:p.Glu48Lys, NP_001338317.1:p.Glu105Lys, NP_001338311.1:p.Glu105Lys, NP_001338314.1:p.Glu105Lys, NP_001338312.1:p.Glu105Lys, NP_001338315.1:p.Glu105Lys, NP_001338313.1:p.Glu105Lys, NP_001338319.1:p.Glu105Lys, NP_001338320.1:p.Glu105Lys, NP_001338323.1:p.Glu105Lys, NP_001307866.1:p.Glu105Lys

Select item 14784424557.

rs1478442455 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:25607260 (GRCh38)
2:25830129 (GRCh37)
Canonical SPDI:: NC_000002.12:25607259:C:T
Gene:: DTNB (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.25607260C>T, NC_000002.11:g.25830129C>T, NM_021907.5:c.424G>A, NM_021907.4:c.424G>A, NM_033147.4:c.424G>A, NM_033147.3:c.424G>A, NM_033148.4:c.424G>A, NM_033148.3:c.424G>A, NM_183360.3:c.424G>A, NM_183360.2:c.424G>A, NM_001256304.3:c.424G>A, NM_001256304.2:c.424G>A, NM_001256304.1:c.424G>A, NM_183361.3:c.424G>A, NM_183361.2:c.424G>A, NM_001351395.2:c.-1860G>A, NM_001351395.1:c.-1860G>A, NM_001351389.2:c.424G>A, NM_001351389.1:c.424G>A, NM_001320936.2:c.424G>A, NM_001320936.1:c.424G>A, NR_147180.2:n.617G>A, NR_147180.1:n.687G>A, NM_001256303.2:c.424G>A, NM_001256303.1:c.424G>A, NM_001320934.2:c.424G>A, NM_001320934.1:c.424G>A, NM_001320933.2:c.424G>A, NM_001320933.1:c.424G>A, NM_001351387.2:c.424G>A, NM_001351387.1:c.424G>A, NM_001256308.2:c.253G>A, NM_001256308.1:c.253G>A, NM_001351388.2:c.424G>A, NM_001351388.1:c.424G>A, NM_001351382.2:c.424G>A, NM_001351382.1:c.424G>A, NM_001351385.2:c.424G>A, NM_001351385.1:c.424G>A, NM_001351383.2:c.424G>A, NM_001351383.1:c.424G>A, NM_001351386.2:c.424G>A, NM_001351386.1:c.424G>A, NM_001351384.2:c.424G>A, NM_001351384.1:c.424G>A, NM_001320932.2:c.-34G>A, NM_001320932.1:c.-34G>A, NM_001351390.2:c.424G>A, NM_001351390.1:c.424G>A, NM_001351391.2:c.424G>A, NM_001351391.1:c.424G>A, NM_001351394.2:c.424G>A, NM_001351394.1:c.424G>A, NM_001320937.2:c.424G>A, NM_001320937.1:c.424G>A, NP_068707.1:p.Gly142Arg, NP_149159.2:p.Gly142Arg, NP_149160.1:p.Gly142Arg, NP_899204.1:p.Gly142Arg, NP_001243233.1:p.Gly142Arg, NP_899205.1:p.Gly142Arg, NP_001338318.1:p.Gly142Arg, NP_001307865.1:p.Gly142Arg, NP_001243232.1:p.Gly142Arg, NP_001307863.1:p.Gly142Arg, NP_001307862.1:p.Gly142Arg, NP_001338316.1:p.Gly142Arg, NP_001243237.1:p.Gly85Arg, NP_001338317.1:p.Gly142Arg, NP_001338311.1:p.Gly142Arg, NP_001338314.1:p.Gly142Arg, NP_001338312.1:p.Gly142Arg, NP_001338315.1:p.Gly142Arg, NP_001338313.1:p.Gly142Arg, NP_001338319.1:p.Gly142Arg, NP_001338320.1:p.Gly142Arg, NP_001338323.1:p.Gly142Arg, NP_001307866.1:p.Gly142Arg

Select item 14780476318.

rs1478047631 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:25432984 (GRCh38)
2:25655853 (GRCh37)
Canonical SPDI:: NC_000002.12:25432983:C:G
Gene:: DTNB (Varview), LOC124900608 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
G=0.000017/4 (GnomAD_exomes)
HGVS:: NC_000002.12:g.25432984C>G, NC_000002.11:g.25655853C>G, NM_021907.5:c.1359G>C, NM_021907.4:c.1359G>C, NM_033147.4:c.1359G>C, NM_033147.3:c.1359G>C, NM_033148.4:c.1269G>C, NM_033148.3:c.1269G>C, NM_183360.3:c.1359G>C, NM_183360.2:c.1359G>C, NM_001256304.3:c.1359G>C, NM_001256304.2:c.1359G>C, NM_001256304.1:c.1359G>C, NM_183361.3:c.1269G>C, NM_183361.2:c.1269G>C, NM_001351395.2:c.444G>C, NM_001351395.1:c.444G>C, NM_001351389.2:c.1269G>C, NM_001351389.1:c.1269G>C, NM_001320936.2:c.1359G>C, NM_001320936.1:c.1359G>C, NR_147180.2:n.1462G>C, NR_147180.1:n.1532G>C, NM_001256303.2:c.1359G>C, NM_001256303.1:c.1359G>C, NM_001320934.2:c.1269G>C, NM_001320934.1:c.1269G>C, NM_001320933.2:c.1269G>C, NM_001320933.1:c.1269G>C, NM_001351387.2:c.1269G>C, NM_001351387.1:c.1269G>C, NM_001256308.2:c.1188G>C, NM_001256308.1:c.1188G>C, NM_001351388.2:c.1359G>C, NM_001351388.1:c.1359G>C, NM_001351382.2:c.1269G>C, NM_001351382.1:c.1269G>C, NM_001351385.2:c.1269G>C, NM_001351385.1:c.1269G>C, NM_001351383.2:c.1269G>C, NM_001351383.1:c.1269G>C, NM_001351386.2:c.1269G>C, NM_001351386.1:c.1269G>C, NM_001351384.2:c.1359G>C, NM_001351384.1:c.1359G>C, NM_001351381.2:c.828G>C, NM_001351381.1:c.828G>C, NM_001351392.2:c.828G>C, NM_001351392.1:c.828G>C, NM_001320932.2:c.747G>C, NM_001320932.1:c.747G>C, NM_001351390.2:c.1269G>C, NM_001351390.1:c.1269G>C, NM_001320935.2:c.747G>C, NM_001320935.1:c.747G>C, NM_001351393.2:c.828G>C, NM_001351393.1:c.828G>C, NM_001351391.2:c.1269G>C, NM_001351391.1:c.1269G>C, NM_001351394.2:c.1359G>C, NM_001351394.1:c.1359G>C, NM_001394686.1:c.918G>C, NP_068707.1:p.Glu453Asp, NP_149159.2:p.Glu453Asp, NP_149160.1:p.Glu423Asp, NP_899204.1:p.Glu453Asp, NP_001243233.1:p.Glu453Asp, NP_899205.1:p.Glu423Asp, NP_001338324.1:p.Glu148Asp, NP_001338318.1:p.Glu423Asp, NP_001307865.1:p.Glu453Asp, NP_001243232.1:p.Glu453Asp, NP_001307863.1:p.Glu423Asp, NP_001307862.1:p.Glu423Asp, NP_001338316.1:p.Glu423Asp, NP_001243237.1:p.Glu396Asp, NP_001338317.1:p.Glu453Asp, NP_001338311.1:p.Glu423Asp, NP_001338314.1:p.Glu423Asp, NP_001338312.1:p.Glu423Asp, NP_001338315.1:p.Glu423Asp, NP_001338313.1:p.Glu453Asp, NP_001338310.1:p.Glu276Asp, NP_001338321.1:p.Glu276Asp, NP_001307861.1:p.Glu249Asp, NP_001338319.1:p.Glu423Asp, NP_001307864.1:p.Glu249Asp, NP_001338322.1:p.Glu276Asp, NP_001338320.1:p.Glu423Asp, NP_001338323.1:p.Glu453Asp, NP_001381615.1:p.Glu306Asp

Select item 14774994699.

rs1477499469 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:25432937 (GRCh38)
2:25655806 (GRCh37)
Canonical SPDI:: NC_000002.12:25432936:G:A
Gene:: DTNB (Varview), LOC124900608 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant,2KB_upstream_variant
HGVS:: NC_000002.12:g.25432937G>A, NC_000002.11:g.25655806G>A, NM_021907.5:c.1406C>T, NM_021907.4:c.1406C>T, NM_033147.4:c.1406C>T, NM_033147.3:c.1406C>T, NM_033148.4:c.1316C>T, NM_033148.3:c.1316C>T, NM_183360.3:c.1406C>T, NM_183360.2:c.1406C>T, NM_001256304.3:c.1406C>T, NM_001256304.2:c.1406C>T, NM_001256304.1:c.1406C>T, NM_183361.3:c.1316C>T, NM_183361.2:c.1316C>T, NM_001351395.2:c.491C>T, NM_001351395.1:c.491C>T, NM_001351389.2:c.1316C>T, NM_001351389.1:c.1316C>T, NM_001320936.2:c.1406C>T, NM_001320936.1:c.1406C>T, NR_147180.2:n.1509C>T, NR_147180.1:n.1579C>T, NM_001256303.2:c.1406C>T, NM_001256303.1:c.1406C>T, NM_001320934.2:c.1316C>T, NM_001320934.1:c.1316C>T, NM_001320933.2:c.1316C>T, NM_001320933.1:c.1316C>T, NM_001351387.2:c.1316C>T, NM_001351387.1:c.1316C>T, NM_001256308.2:c.1235C>T, NM_001256308.1:c.1235C>T, NM_001351388.2:c.1406C>T, NM_001351388.1:c.1406C>T, NM_001351382.2:c.1316C>T, NM_001351382.1:c.1316C>T, NM_001351385.2:c.1316C>T, NM_001351385.1:c.1316C>T, NM_001351383.2:c.1316C>T, NM_001351383.1:c.1316C>T, NM_001351386.2:c.1316C>T, NM_001351386.1:c.1316C>T, NM_001351384.2:c.1406C>T, NM_001351384.1:c.1406C>T, NM_001351381.2:c.875C>T, NM_001351381.1:c.875C>T, NM_001351392.2:c.875C>T, NM_001351392.1:c.875C>T, NM_001320932.2:c.794C>T, NM_001320932.1:c.794C>T, NM_001351390.2:c.1316C>T, NM_001351390.1:c.1316C>T, NM_001320935.2:c.794C>T, NM_001320935.1:c.794C>T, NM_001351393.2:c.875C>T, NM_001351393.1:c.875C>T, NM_001351391.2:c.1316C>T, NM_001351391.1:c.1316C>T, NM_001351394.2:c.1406C>T, NM_001351394.1:c.1406C>T, NM_001394686.1:c.965C>T, NP_068707.1:p.Pro469Leu, NP_149159.2:p.Pro469Leu, NP_149160.1:p.Pro439Leu, NP_899204.1:p.Pro469Leu, NP_001243233.1:p.Pro469Leu, NP_899205.1:p.Pro439Leu, NP_001338324.1:p.Pro164Leu, NP_001338318.1:p.Pro439Leu, NP_001307865.1:p.Pro469Leu, NP_001243232.1:p.Pro469Leu, NP_001307863.1:p.Pro439Leu, NP_001307862.1:p.Pro439Leu, NP_001338316.1:p.Pro439Leu, NP_001243237.1:p.Pro412Leu, NP_001338317.1:p.Pro469Leu, NP_001338311.1:p.Pro439Leu, NP_001338314.1:p.Pro439Leu, NP_001338312.1:p.Pro439Leu, NP_001338315.1:p.Pro439Leu, NP_001338313.1:p.Pro469Leu, NP_001338310.1:p.Pro292Leu, NP_001338321.1:p.Pro292Leu, NP_001307861.1:p.Pro265Leu, NP_001338319.1:p.Pro439Leu, NP_001307864.1:p.Pro265Leu, NP_001338322.1:p.Pro292Leu, NP_001338320.1:p.Pro439Leu, NP_001338323.1:p.Pro469Leu, NP_001381615.1:p.Pro322Leu

Select item 147606126710.

rs1476061267 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:25432979 (GRCh38)
2:25655848 (GRCh37)
Canonical SPDI:: NC_000002.12:25432978:T:C
Gene:: DTNB (Varview), LOC124900608 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.25432979T>C, NC_000002.11:g.25655848T>C, NM_021907.5:c.1364A>G, NM_021907.4:c.1364A>G, NM_033147.4:c.1364A>G, NM_033147.3:c.1364A>G, NM_033148.4:c.1274A>G, NM_033148.3:c.1274A>G, NM_183360.3:c.1364A>G, NM_183360.2:c.1364A>G, NM_001256304.3:c.1364A>G, NM_001256304.2:c.1364A>G, NM_001256304.1:c.1364A>G, NM_183361.3:c.1274A>G, NM_183361.2:c.1274A>G, NM_001351395.2:c.449A>G, NM_001351395.1:c.449A>G, NM_001351389.2:c.1274A>G, NM_001351389.1:c.1274A>G, NM_001320936.2:c.1364A>G, NM_001320936.1:c.1364A>G, NR_147180.2:n.1467A>G, NR_147180.1:n.1537A>G, NM_001256303.2:c.1364A>G, NM_001256303.1:c.1364A>G, NM_001320934.2:c.1274A>G, NM_001320934.1:c.1274A>G, NM_001320933.2:c.1274A>G, NM_001320933.1:c.1274A>G, NM_001351387.2:c.1274A>G, NM_001351387.1:c.1274A>G, NM_001256308.2:c.1193A>G, NM_001256308.1:c.1193A>G, NM_001351388.2:c.1364A>G, NM_001351388.1:c.1364A>G, NM_001351382.2:c.1274A>G, NM_001351382.1:c.1274A>G, NM_001351385.2:c.1274A>G, NM_001351385.1:c.1274A>G, NM_001351383.2:c.1274A>G, NM_001351383.1:c.1274A>G, NM_001351386.2:c.1274A>G, NM_001351386.1:c.1274A>G, NM_001351384.2:c.1364A>G, NM_001351384.1:c.1364A>G, NM_001351381.2:c.833A>G, NM_001351381.1:c.833A>G, NM_001351392.2:c.833A>G, NM_001351392.1:c.833A>G, NM_001320932.2:c.752A>G, NM_001320932.1:c.752A>G, NM_001351390.2:c.1274A>G, NM_001351390.1:c.1274A>G, NM_001320935.2:c.752A>G, NM_001320935.1:c.752A>G, NM_001351393.2:c.833A>G, NM_001351393.1:c.833A>G, NM_001351391.2:c.1274A>G, NM_001351391.1:c.1274A>G, NM_001351394.2:c.1364A>G, NM_001351394.1:c.1364A>G, NM_001394686.1:c.923A>G, NP_068707.1:p.Gln455Arg, NP_149159.2:p.Gln455Arg, NP_149160.1:p.Gln425Arg, NP_899204.1:p.Gln455Arg, NP_001243233.1:p.Gln455Arg, NP_899205.1:p.Gln425Arg, NP_001338324.1:p.Gln150Arg, NP_001338318.1:p.Gln425Arg, NP_001307865.1:p.Gln455Arg, NP_001243232.1:p.Gln455Arg, NP_001307863.1:p.Gln425Arg, NP_001307862.1:p.Gln425Arg, NP_001338316.1:p.Gln425Arg, NP_001243237.1:p.Gln398Arg, NP_001338317.1:p.Gln455Arg, NP_001338311.1:p.Gln425Arg, NP_001338314.1:p.Gln425Arg, NP_001338312.1:p.Gln425Arg, NP_001338315.1:p.Gln425Arg, NP_001338313.1:p.Gln455Arg, NP_001338310.1:p.Gln278Arg, NP_001338321.1:p.Gln278Arg, NP_001307861.1:p.Gln251Arg, NP_001338319.1:p.Gln425Arg, NP_001307864.1:p.Gln251Arg, NP_001338322.1:p.Gln278Arg, NP_001338320.1:p.Gln425Arg, NP_001338323.1:p.Gln455Arg, NP_001381615.1:p.Gln308Arg

Select item 147583586211.

rs1475835862 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:25427555 (GRCh38)
2:25650424 (GRCh37)
Canonical SPDI:: NC_000002.12:25427554:C:A
Gene:: DTNB (Varview), DTNB-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,stop_gained
Validated:: by frequency,by alfa
MAF:: A=0.000084/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.25427555C>A, NC_000002.11:g.25650424C>A, NM_021907.5:c.1534G>T, NM_021907.4:c.1534G>T, NM_033147.4:c.1534G>T, NM_033147.3:c.1534G>T, NM_033148.4:c.1444G>T, NM_033148.3:c.1444G>T, XR_244976.4:n.293C>A, XR_244976.3:n.294C>A, XR_244976.2:n.656C>A, XR_427012.4:n.203C>A, XR_427012.3:n.223C>A, XR_427012.2:n.566C>A, NM_183360.3:c.1534G>T, NM_183360.2:c.1534G>T, NM_001256304.3:c.1534G>T, NM_001256304.2:c.1534G>T, NM_001256304.1:c.1534G>T, NM_183361.3:c.1444G>T, NM_183361.2:c.1444G>T, XR_939844.3:n.423C>A, XR_939844.2:n.406C>A, NM_001351395.2:c.619G>T, NM_001351395.1:c.619G>T, NM_001351389.2:c.1444G>T, NM_001351389.1:c.1444G>T, NM_001320936.2:c.1534G>T, NM_001320936.1:c.1534G>T, NR_147180.2:n.1637G>T, NR_147180.1:n.1707G>T, NM_001256303.2:c.1534G>T, NM_001256303.1:c.1534G>T, NM_001320934.2:c.1444G>T, NM_001320934.1:c.1444G>T, NM_001320933.2:c.1444G>T, NM_001320933.1:c.1444G>T, NM_001351387.2:c.1462G>T, NM_001351387.1:c.1462G>T, NM_001256308.2:c.1363G>T, NM_001256308.1:c.1363G>T, NM_001351388.2:c.1534G>T, NM_001351388.1:c.1534G>T, NM_001351382.2:c.1444G>T, NM_001351382.1:c.1444G>T, NM_001351385.2:c.1462G>T, NM_001351385.1:c.1462G>T, NM_001351383.2:c.1462G>T, NM_001351383.1:c.1462G>T, NM_001351386.2:c.1444G>T, NM_001351386.1:c.1444G>T, NM_001351384.2:c.1534G>T, NM_001351384.1:c.1534G>T, NM_001351381.2:c.1003G>T, NM_001351381.1:c.1003G>T, NM_001351392.2:c.1003G>T, NM_001351392.1:c.1003G>T, NM_001320932.2:c.922G>T, NM_001320932.1:c.922G>T, NM_001351390.2:c.1444G>T, NM_001351390.1:c.1444G>T, NM_001320935.2:c.922G>T, NM_001320935.1:c.922G>T, NM_001351393.2:c.1003G>T, NM_001351393.1:c.1003G>T, NM_001351391.2:c.1444G>T, NM_001351391.1:c.1444G>T, NM_001351394.2:c.1534G>T, NM_001351394.1:c.1534G>T, NM_001394686.1:c.1093G>T, NP_068707.1:p.Glu512Ter, NP_149159.2:p.Glu512Ter, NP_149160.1:p.Glu482Ter, NP_899204.1:p.Glu512Ter, NP_001243233.1:p.Glu512Ter, NP_899205.1:p.Glu482Ter, NP_001338324.1:p.Glu207Ter, NP_001338318.1:p.Glu482Ter, NP_001307865.1:p.Glu512Ter, NP_001243232.1:p.Glu512Ter, NP_001307863.1:p.Glu482Ter, NP_001307862.1:p.Glu482Ter, NP_001338316.1:p.Glu488Ter, NP_001243237.1:p.Glu455Ter, NP_001338317.1:p.Glu512Ter, NP_001338311.1:p.Glu482Ter, NP_001338314.1:p.Glu488Ter, NP_001338312.1:p.Glu488Ter, NP_001338315.1:p.Glu482Ter, NP_001338313.1:p.Glu512Ter, NP_001338310.1:p.Glu335Ter, NP_001338321.1:p.Glu335Ter, NP_001307861.1:p.Glu308Ter, NP_001338319.1:p.Glu482Ter, NP_001307864.1:p.Glu308Ter, NP_001338322.1:p.Glu335Ter, NP_001338320.1:p.Glu482Ter, NP_001338323.1:p.Glu512Ter, NP_001381615.1:p.Glu365Ter

Select item 147564213612.

rs1475642136 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACCTTCCTCTGC>- [Show Flanks]
Chromosome:: 2:25383879 (GRCh38)
2:25606748 (GRCh37)
Canonical SPDI:: NC_000002.12:25383868:CTTCCTCTGCACCTTCCTCTGC:CTTCCTCTGC
Gene:: DTNB (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant,splice_acceptor_variant
Validated:: by frequency,by cluster
MAF:: -=0.000004/1 (GnomAD_exomes)
-=0.000071/1 (TOMMO)
-=0.000546/1 (Korea1K)
HGVS:: NC_000002.12:g.25383879_25383890del, NC_000002.11:g.25606748_25606759del

Select item 147540995113.

rs1475409951 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:25639037 (GRCh38)
2:25861906 (GRCh37)
Canonical SPDI:: NC_000002.12:25639036:C:T
Gene:: DTNB (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
T=0.000071/1 (TOMMO)
HGVS:: NC_000002.12:g.25639037C>T, NC_000002.11:g.25861906C>T, NM_021907.5:c.125G>A, NM_021907.4:c.125G>A, NM_033147.4:c.125G>A, NM_033147.3:c.125G>A, NM_033148.4:c.125G>A, NM_033148.3:c.125G>A, NM_183360.3:c.125G>A, NM_183360.2:c.125G>A, NM_001256304.3:c.125G>A, NM_001256304.2:c.125G>A, NM_001256304.1:c.125G>A, NM_183361.3:c.125G>A, NM_183361.2:c.125G>A, NM_001351395.2:c.-2159G>A, NM_001351395.1:c.-2159G>A, NM_001351389.2:c.125G>A, NM_001351389.1:c.125G>A, NM_001320936.2:c.125G>A, NM_001320936.1:c.125G>A, NR_147180.2:n.318G>A, NR_147180.1:n.388G>A, NM_001256303.2:c.125G>A, NM_001256303.1:c.125G>A, NM_001320934.2:c.125G>A, NM_001320934.1:c.125G>A, NM_001320933.2:c.125G>A, NM_001320933.1:c.125G>A, NM_001351387.2:c.125G>A, NM_001351387.1:c.125G>A, NM_001256308.2:c.-47G>A, NM_001256308.1:c.-47G>A, NM_001351388.2:c.125G>A, NM_001351388.1:c.125G>A, NM_001351382.2:c.125G>A, NM_001351382.1:c.125G>A, NM_001351385.2:c.125G>A, NM_001351385.1:c.125G>A, NM_001351383.2:c.125G>A, NM_001351383.1:c.125G>A, NM_001351386.2:c.125G>A, NM_001351386.1:c.125G>A, NM_001351384.2:c.125G>A, NM_001351384.1:c.125G>A, NM_001351381.2:c.-231G>A, NM_001351381.1:c.-231G>A, NM_001351392.2:c.-231G>A, NM_001351392.1:c.-231G>A, NM_001320932.2:c.-333G>A, NM_001320932.1:c.-333G>A, NM_001351390.2:c.125G>A, NM_001351390.1:c.125G>A, NM_001320935.2:c.-247G>A, NM_001320935.1:c.-247G>A, NM_001351393.2:c.-231G>A, NM_001351393.1:c.-231G>A, NM_001351391.2:c.125G>A, NM_001351391.1:c.125G>A, NM_001351394.2:c.125G>A, NM_001351394.1:c.125G>A, NM_001320937.2:c.125G>A, NM_001320937.1:c.125G>A, NM_001394686.1:c.-231G>A, NP_068707.1:p.Arg42Gln, NP_149159.2:p.Arg42Gln, NP_149160.1:p.Arg42Gln, NP_899204.1:p.Arg42Gln, NP_001243233.1:p.Arg42Gln, NP_899205.1:p.Arg42Gln, NP_001338318.1:p.Arg42Gln, NP_001307865.1:p.Arg42Gln, NP_001243232.1:p.Arg42Gln, NP_001307863.1:p.Arg42Gln, NP_001307862.1:p.Arg42Gln, NP_001338316.1:p.Arg42Gln, NP_001338317.1:p.Arg42Gln, NP_001338311.1:p.Arg42Gln, NP_001338314.1:p.Arg42Gln, NP_001338312.1:p.Arg42Gln, NP_001338315.1:p.Arg42Gln, NP_001338313.1:p.Arg42Gln, NP_001338319.1:p.Arg42Gln, NP_001338320.1:p.Arg42Gln, NP_001338323.1:p.Arg42Gln, NP_001307866.1:p.Arg42Gln

Select item 147472608214.

rs1474726082 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:25639029 (GRCh38)
2:25861898 (GRCh37)
Canonical SPDI:: NC_000002.12:25639028:G:C
Gene:: DTNB (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.25639029G>C, NC_000002.11:g.25861898G>C, NM_021907.5:c.133C>G, NM_021907.4:c.133C>G, NM_033147.4:c.133C>G, NM_033147.3:c.133C>G, NM_033148.4:c.133C>G, NM_033148.3:c.133C>G, NM_183360.3:c.133C>G, NM_183360.2:c.133C>G, NM_001256304.3:c.133C>G, NM_001256304.2:c.133C>G, NM_001256304.1:c.133C>G, NM_183361.3:c.133C>G, NM_183361.2:c.133C>G, NM_001351395.2:c.-2151C>G, NM_001351395.1:c.-2151C>G, NM_001351389.2:c.133C>G, NM_001351389.1:c.133C>G, NM_001320936.2:c.133C>G, NM_001320936.1:c.133C>G, NR_147180.2:n.326C>G, NR_147180.1:n.396C>G, NM_001256303.2:c.133C>G, NM_001256303.1:c.133C>G, NM_001320934.2:c.133C>G, NM_001320934.1:c.133C>G, NM_001320933.2:c.133C>G, NM_001320933.1:c.133C>G, NM_001351387.2:c.133C>G, NM_001351387.1:c.133C>G, NM_001256308.2:c.-39C>G, NM_001256308.1:c.-39C>G, NM_001351388.2:c.133C>G, NM_001351388.1:c.133C>G, NM_001351382.2:c.133C>G, NM_001351382.1:c.133C>G, NM_001351385.2:c.133C>G, NM_001351385.1:c.133C>G, NM_001351383.2:c.133C>G, NM_001351383.1:c.133C>G, NM_001351386.2:c.133C>G, NM_001351386.1:c.133C>G, NM_001351384.2:c.133C>G, NM_001351384.1:c.133C>G, NM_001351381.2:c.-223C>G, NM_001351381.1:c.-223C>G, NM_001351392.2:c.-223C>G, NM_001351392.1:c.-223C>G, NM_001320932.2:c.-325C>G, NM_001320932.1:c.-325C>G, NM_001351390.2:c.133C>G, NM_001351390.1:c.133C>G, NM_001320935.2:c.-239C>G, NM_001320935.1:c.-239C>G, NM_001351393.2:c.-223C>G, NM_001351393.1:c.-223C>G, NM_001351391.2:c.133C>G, NM_001351391.1:c.133C>G, NM_001351394.2:c.133C>G, NM_001351394.1:c.133C>G, NM_001320937.2:c.133C>G, NM_001320937.1:c.133C>G, NM_001394686.1:c.-223C>G, NP_068707.1:p.Gln45Glu, NP_149159.2:p.Gln45Glu, NP_149160.1:p.Gln45Glu, NP_899204.1:p.Gln45Glu, NP_001243233.1:p.Gln45Glu, NP_899205.1:p.Gln45Glu, NP_001338318.1:p.Gln45Glu, NP_001307865.1:p.Gln45Glu, NP_001243232.1:p.Gln45Glu, NP_001307863.1:p.Gln45Glu, NP_001307862.1:p.Gln45Glu, NP_001338316.1:p.Gln45Glu, NP_001338317.1:p.Gln45Glu, NP_001338311.1:p.Gln45Glu, NP_001338314.1:p.Gln45Glu, NP_001338312.1:p.Gln45Glu, NP_001338315.1:p.Gln45Glu, NP_001338313.1:p.Gln45Glu, NP_001338319.1:p.Gln45Glu, NP_001338320.1:p.Gln45Glu, NP_001338323.1:p.Gln45Glu, NP_001307866.1:p.Gln45Glu

Select item 147353718115.

rs1473537181 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:25432995 (GRCh38)
2:25655864 (GRCh37)
Canonical SPDI:: NC_000002.12:25432994:T:C
Gene:: DTNB (Varview), LOC124900608 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000094/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.25432995T>C, NC_000002.11:g.25655864T>C, NM_021907.5:c.1348A>G, NM_021907.4:c.1348A>G, NM_033147.4:c.1348A>G, NM_033147.3:c.1348A>G, NM_033148.4:c.1258A>G, NM_033148.3:c.1258A>G, NM_183360.3:c.1348A>G, NM_183360.2:c.1348A>G, NM_001256304.3:c.1348A>G, NM_001256304.2:c.1348A>G, NM_001256304.1:c.1348A>G, NM_183361.3:c.1258A>G, NM_183361.2:c.1258A>G, NM_001351395.2:c.433A>G, NM_001351395.1:c.433A>G, NM_001351389.2:c.1258A>G, NM_001351389.1:c.1258A>G, NM_001320936.2:c.1348A>G, NM_001320936.1:c.1348A>G, NR_147180.2:n.1451A>G, NR_147180.1:n.1521A>G, NM_001256303.2:c.1348A>G, NM_001256303.1:c.1348A>G, NM_001320934.2:c.1258A>G, NM_001320934.1:c.1258A>G, NM_001320933.2:c.1258A>G, NM_001320933.1:c.1258A>G, NM_001351387.2:c.1258A>G, NM_001351387.1:c.1258A>G, NM_001256308.2:c.1177A>G, NM_001256308.1:c.1177A>G, NM_001351388.2:c.1348A>G, NM_001351388.1:c.1348A>G, NM_001351382.2:c.1258A>G, NM_001351382.1:c.1258A>G, NM_001351385.2:c.1258A>G, NM_001351385.1:c.1258A>G, NM_001351383.2:c.1258A>G, NM_001351383.1:c.1258A>G, NM_001351386.2:c.1258A>G, NM_001351386.1:c.1258A>G, NM_001351384.2:c.1348A>G, NM_001351384.1:c.1348A>G, NM_001351381.2:c.817A>G, NM_001351381.1:c.817A>G, NM_001351392.2:c.817A>G, NM_001351392.1:c.817A>G, NM_001320932.2:c.736A>G, NM_001320932.1:c.736A>G, NM_001351390.2:c.1258A>G, NM_001351390.1:c.1258A>G, NM_001320935.2:c.736A>G, NM_001320935.1:c.736A>G, NM_001351393.2:c.817A>G, NM_001351393.1:c.817A>G, NM_001351391.2:c.1258A>G, NM_001351391.1:c.1258A>G, NM_001351394.2:c.1348A>G, NM_001351394.1:c.1348A>G, NM_001394686.1:c.907A>G, NP_068707.1:p.Ile450Val, NP_149159.2:p.Ile450Val, NP_149160.1:p.Ile420Val, NP_899204.1:p.Ile450Val, NP_001243233.1:p.Ile450Val, NP_899205.1:p.Ile420Val, NP_001338324.1:p.Ile145Val, NP_001338318.1:p.Ile420Val, NP_001307865.1:p.Ile450Val, NP_001243232.1:p.Ile450Val, NP_001307863.1:p.Ile420Val, NP_001307862.1:p.Ile420Val, NP_001338316.1:p.Ile420Val, NP_001243237.1:p.Ile393Val, NP_001338317.1:p.Ile450Val, NP_001338311.1:p.Ile420Val, NP_001338314.1:p.Ile420Val, NP_001338312.1:p.Ile420Val, NP_001338315.1:p.Ile420Val, NP_001338313.1:p.Ile450Val, NP_001338310.1:p.Ile273Val, NP_001338321.1:p.Ile273Val, NP_001307861.1:p.Ile246Val, NP_001338319.1:p.Ile420Val, NP_001307864.1:p.Ile246Val, NP_001338322.1:p.Ile273Val, NP_001338320.1:p.Ile420Val, NP_001338323.1:p.Ile450Val, NP_001381615.1:p.Ile303Val

Select item 147189805316.

rs1471898053 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:25451584 (GRCh38)
2:25674453 (GRCh37)
Canonical SPDI:: NC_000002.12:25451583:G:A
Gene:: DTNB (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.25451584G>A, NC_000002.11:g.25674453G>A, NM_021907.5:c.1221C>T, NM_021907.4:c.1221C>T, NM_033147.4:c.1221C>T, NM_033147.3:c.1221C>T, NM_033148.4:c.1131C>T, NM_033148.3:c.1131C>T, NM_183360.3:c.1221C>T, NM_183360.2:c.1221C>T, NM_001256304.3:c.1221C>T, NM_001256304.2:c.1221C>T, NM_001256304.1:c.1221C>T, NM_183361.3:c.1131C>T, NM_183361.2:c.1131C>T, NM_001351395.2:c.306C>T, NM_001351395.1:c.306C>T, NM_001351389.2:c.1131C>T, NM_001351389.1:c.1131C>T, NM_001320936.2:c.1221C>T, NM_001320936.1:c.1221C>T, NR_147180.2:n.1324C>T, NR_147180.1:n.1394C>T, NM_001256303.2:c.1221C>T, NM_001256303.1:c.1221C>T, NM_001320934.2:c.1131C>T, NM_001320934.1:c.1131C>T, NM_001320933.2:c.1131C>T, NM_001320933.1:c.1131C>T, NM_001351387.2:c.1131C>T, NM_001351387.1:c.1131C>T, NM_001256308.2:c.1050C>T, NM_001256308.1:c.1050C>T, NM_001351388.2:c.1221C>T, NM_001351388.1:c.1221C>T, NM_001351382.2:c.1131C>T, NM_001351382.1:c.1131C>T, NM_001351385.2:c.1131C>T, NM_001351385.1:c.1131C>T, NM_001351383.2:c.1131C>T, NM_001351383.1:c.1131C>T, NM_001351386.2:c.1131C>T, NM_001351386.1:c.1131C>T, NM_001351384.2:c.1221C>T, NM_001351384.1:c.1221C>T, NM_001351381.2:c.690C>T, NM_001351381.1:c.690C>T, NM_001351392.2:c.690C>T, NM_001351392.1:c.690C>T, NM_001320932.2:c.609C>T, NM_001320932.1:c.609C>T, NM_001351390.2:c.1131C>T, NM_001351390.1:c.1131C>T, NM_001320935.2:c.609C>T, NM_001320935.1:c.609C>T, NM_001351393.2:c.690C>T, NM_001351393.1:c.690C>T, NM_001351391.2:c.1131C>T, NM_001351391.1:c.1131C>T, NM_001351394.2:c.1221C>T, NM_001351394.1:c.1221C>T, NM_001394686.1:c.780C>T

Select item 146905008417.

rs1469050084 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 2:25576990 (GRCh38)
2:25799859 (GRCh37)
Canonical SPDI:: NC_000002.12:25576989:C:A,NC_000002.12:25576989:C:G
Gene:: DTNB (Varview)
Functional Consequence:: missense_variant,stop_gained,non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
A=0.000546/1 (Korea1K)
HGVS:: NC_000002.12:g.25576990C>A, NC_000002.12:g.25576990C>G, NC_000002.11:g.25799859C>A, NC_000002.11:g.25799859C>G, NM_021907.5:c.724G>T, NM_021907.5:c.724G>C, NM_021907.4:c.724G>T, NM_021907.4:c.724G>C, NM_033147.4:c.724G>T, NM_033147.4:c.724G>C, NM_033147.3:c.724G>T, NM_033147.3:c.724G>C, NM_033148.4:c.724G>T, NM_033148.4:c.724G>C, NM_033148.3:c.724G>T, NM_033148.3:c.724G>C, NM_183360.3:c.724G>T, NM_183360.3:c.724G>C, NM_183360.2:c.724G>T, NM_183360.2:c.724G>C, NM_001256304.3:c.724G>T, NM_001256304.3:c.724G>C, NM_001256304.2:c.724G>T, NM_001256304.2:c.724G>C, NM_001256304.1:c.724G>T, NM_001256304.1:c.724G>C, NM_183361.3:c.724G>T, NM_183361.3:c.724G>C, NM_183361.2:c.724G>T, NM_183361.2:c.724G>C, NM_001351395.2:c.-1560G>T, NM_001351395.2:c.-1560G>C, NM_001351395.1:c.-1560G>T, NM_001351395.1:c.-1560G>C, NM_001351389.2:c.724G>T, NM_001351389.2:c.724G>C, NM_001351389.1:c.724G>T, NM_001351389.1:c.724G>C, NM_001320936.2:c.724G>T, NM_001320936.2:c.724G>C, NM_001320936.1:c.724G>T, NM_001320936.1:c.724G>C, NR_147180.2:n.917G>T, NR_147180.2:n.917G>C, NR_147180.1:n.987G>T, NR_147180.1:n.987G>C, NM_001256303.2:c.724G>T, NM_001256303.2:c.724G>C, NM_001256303.1:c.724G>T, NM_001256303.1:c.724G>C, NM_001320934.2:c.724G>T, NM_001320934.2:c.724G>C, NM_001320934.1:c.724G>T, NM_001320934.1:c.724G>C, NM_001320933.2:c.724G>T, NM_001320933.2:c.724G>C, NM_001320933.1:c.724G>T, NM_001320933.1:c.724G>C, NM_001351387.2:c.724G>T, NM_001351387.2:c.724G>C, NM_001351387.1:c.724G>T, NM_001351387.1:c.724G>C, NM_001256308.2:c.553G>T, NM_001256308.2:c.553G>C, NM_001256308.1:c.553G>T, NM_001256308.1:c.553G>C, NM_001351388.2:c.724G>T, NM_001351388.2:c.724G>C, NM_001351388.1:c.724G>T, NM_001351388.1:c.724G>C, NM_001351382.2:c.724G>T, NM_001351382.2:c.724G>C, NM_001351382.1:c.724G>T, NM_001351382.1:c.724G>C, NM_001351385.2:c.724G>T, NM_001351385.2:c.724G>C, NM_001351385.1:c.724G>T, NM_001351385.1:c.724G>C, NM_001351383.2:c.724G>T, NM_001351383.2:c.724G>C, NM_001351383.1:c.724G>T, NM_001351383.1:c.724G>C, NM_001351386.2:c.724G>T, NM_001351386.2:c.724G>C, NM_001351386.1:c.724G>T, NM_001351386.1:c.724G>C, NM_001351384.2:c.724G>T, NM_001351384.2:c.724G>C, NM_001351384.1:c.724G>T, NM_001351384.1:c.724G>C, NM_001351381.2:c.283G>T, NM_001351381.2:c.283G>C, NM_001351381.1:c.283G>T, NM_001351381.1:c.283G>C, NM_001351392.2:c.283G>T, NM_001351392.2:c.283G>C, NM_001351392.1:c.283G>T, NM_001351392.1:c.283G>C, NM_001320932.2:c.112G>T, NM_001320932.2:c.112G>C, NM_001320932.1:c.112G>T, NM_001320932.1:c.112G>C, NM_001351390.2:c.724G>T, NM_001351390.2:c.724G>C, NM_001351390.1:c.724G>T, NM_001351390.1:c.724G>C, NM_001320935.2:c.112G>T, NM_001320935.2:c.112G>C, NM_001320935.1:c.112G>T, NM_001320935.1:c.112G>C, NM_001351393.2:c.283G>T, NM_001351393.2:c.283G>C, NM_001351393.1:c.283G>T, NM_001351393.1:c.283G>C, NM_001351391.2:c.724G>T, NM_001351391.2:c.724G>C, NM_001351391.1:c.724G>T, NM_001351391.1:c.724G>C, NM_001351394.2:c.724G>T, NM_001351394.2:c.724G>C, NM_001351394.1:c.724G>T, NM_001351394.1:c.724G>C, NM_001320937.2:c.724G>T, NM_001320937.2:c.724G>C, NM_001320937.1:c.724G>T, NM_001320937.1:c.724G>C, NM_001394686.1:c.283G>T, NM_001394686.1:c.283G>C, NP_068707.1:p.Glu242Ter, NP_068707.1:p.Glu242Gln, NP_149159.2:p.Glu242Ter, NP_149159.2:p.Glu242Gln, NP_149160.1:p.Glu242Ter, NP_149160.1:p.Glu242Gln, NP_899204.1:p.Glu242Ter, NP_899204.1:p.Glu242Gln, NP_001243233.1:p.Glu242Ter, NP_001243233.1:p.Glu242Gln, NP_899205.1:p.Glu242Ter, NP_899205.1:p.Glu242Gln, NP_001338318.1:p.Glu242Ter, NP_001338318.1:p.Glu242Gln, NP_001307865.1:p.Glu242Ter, NP_001307865.1:p.Glu242Gln, NP_001243232.1:p.Glu242Ter, NP_001243232.1:p.Glu242Gln, NP_001307863.1:p.Glu242Ter, NP_001307863.1:p.Glu242Gln, NP_001307862.1:p.Glu242Ter, NP_001307862.1:p.Glu242Gln, NP_001338316.1:p.Glu242Ter, NP_001338316.1:p.Glu242Gln, NP_001243237.1:p.Glu185Ter, NP_001243237.1:p.Glu185Gln, NP_001338317.1:p.Glu242Ter, NP_001338317.1:p.Glu242Gln, NP_001338311.1:p.Glu242Ter, NP_001338311.1:p.Glu242Gln, NP_001338314.1:p.Glu242Ter, NP_001338314.1:p.Glu242Gln, NP_001338312.1:p.Glu242Ter, NP_001338312.1:p.Glu242Gln, NP_001338315.1:p.Glu242Ter, NP_001338315.1:p.Glu242Gln, NP_001338313.1:p.Glu242Ter, NP_001338313.1:p.Glu242Gln, NP_001338310.1:p.Glu95Ter, NP_001338310.1:p.Glu95Gln, NP_001338321.1:p.Glu95Ter, NP_001338321.1:p.Glu95Gln, NP_001307861.1:p.Glu38Ter, NP_001307861.1:p.Glu38Gln, NP_001338319.1:p.Glu242Ter, NP_001338319.1:p.Glu242Gln, NP_001307864.1:p.Glu38Ter, NP_001307864.1:p.Glu38Gln, NP_001338322.1:p.Glu95Ter, NP_001338322.1:p.Glu95Gln, NP_001338320.1:p.Glu242Ter, NP_001338320.1:p.Glu242Gln, NP_001338323.1:p.Glu242Ter, NP_001338323.1:p.Glu242Gln, NP_001307866.1:p.Glu242Ter, NP_001307866.1:p.Glu242Gln, NP_001381615.1:p.Glu95Ter, NP_001381615.1:p.Glu95Gln

Select item 146726450518.

rs1467264505 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:25388250 (GRCh38)
2:25611119 (GRCh37)
Canonical SPDI:: NC_000002.12:25388249:C:T
Gene:: DTNB (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000002.12:g.25388250C>T, NC_000002.11:g.25611119C>T, NM_021907.5:c.1687G>A, NM_021907.4:c.1687G>A, NM_033147.4:c.1687G>A, NM_033147.3:c.1687G>A, NM_033148.4:c.1597G>A, NM_033148.3:c.1597G>A, NM_183360.3:c.1687G>A, NM_183360.2:c.1687G>A, NM_001256304.3:c.1666G>A, NM_001256304.2:c.1666G>A, NM_001256304.1:c.1666G>A, NM_183361.3:c.1576G>A, NM_183361.2:c.1576G>A, NM_001351395.2:c.751G>A, NM_001351395.1:c.751G>A, NM_001320936.2:c.1687G>A, NM_001320936.1:c.1687G>A, NR_147180.2:n.1790G>A, NR_147180.1:n.1860G>A, NM_001256303.2:c.1666G>A, NM_001256303.1:c.1666G>A, NM_001320934.2:c.1597G>A, NM_001320934.1:c.1597G>A, NM_001320933.2:c.1576G>A, NM_001320933.1:c.1576G>A, NM_001351387.2:c.1615G>A, NM_001351387.1:c.1615G>A, NM_001256308.2:c.1495G>A, NM_001256308.1:c.1495G>A, NM_001351388.2:c.1687G>A, NM_001351388.1:c.1687G>A, NM_001351382.2:c.1597G>A, NM_001351382.1:c.1597G>A, NM_001351385.2:c.1594G>A, NM_001351385.1:c.1594G>A, NM_001351383.2:c.1615G>A, NM_001351383.1:c.1615G>A, NM_001351386.2:c.1576G>A, NM_001351386.1:c.1576G>A, NM_001351384.2:c.1666G>A, NM_001351384.1:c.1666G>A, NM_001351381.2:c.1156G>A, NM_001351381.1:c.1156G>A, NM_001351392.2:c.1156G>A, NM_001351392.1:c.1156G>A, NM_001320932.2:c.1054G>A, NM_001320932.1:c.1054G>A, NM_001351390.2:c.1597G>A, NM_001351390.1:c.1597G>A, NM_001320935.2:c.1054G>A, NM_001320935.1:c.1054G>A, NM_001351393.2:c.1156G>A, NM_001351393.1:c.1156G>A, NM_001351391.2:c.1576G>A, NM_001351391.1:c.1576G>A, NM_001394686.1:c.1225G>A, NP_068707.1:p.Asp563Asn, NP_149159.2:p.Asp563Asn, NP_149160.1:p.Asp533Asn, NP_899204.1:p.Asp563Asn, NP_001243233.1:p.Asp556Asn, NP_899205.1:p.Asp526Asn, NP_001338324.1:p.Asp251Asn, NP_001307865.1:p.Asp563Asn, NP_001243232.1:p.Asp556Asn, NP_001307863.1:p.Asp533Asn, NP_001307862.1:p.Asp526Asn, NP_001338316.1:p.Asp539Asn, NP_001243237.1:p.Asp499Asn, NP_001338317.1:p.Asp563Asn, NP_001338311.1:p.Asp533Asn, NP_001338314.1:p.Asp532Asn, NP_001338312.1:p.Asp539Asn, NP_001338315.1:p.Asp526Asn, NP_001338313.1:p.Asp556Asn, NP_001338310.1:p.Asp386Asn, NP_001338321.1:p.Asp386Asn, NP_001307861.1:p.Asp352Asn, NP_001338319.1:p.Asp533Asn, NP_001307864.1:p.Asp352Asn, NP_001338322.1:p.Asp386Asn, NP_001338320.1:p.Asp526Asn, NP_001381615.1:p.Asp409Asn

Select item 146686967619.

rs1466869676 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:25451558 (GRCh38)
2:25674427 (GRCh37)
Canonical SPDI:: NC_000002.12:25451557:G:A
Gene:: DTNB (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000002.12:g.25451558G>A, NC_000002.11:g.25674427G>A, NM_021907.5:c.1247C>T, NM_021907.4:c.1247C>T, NM_033147.4:c.1247C>T, NM_033147.3:c.1247C>T, NM_033148.4:c.1157C>T, NM_033148.3:c.1157C>T, NM_183360.3:c.1247C>T, NM_183360.2:c.1247C>T, NM_001256304.3:c.1247C>T, NM_001256304.2:c.1247C>T, NM_001256304.1:c.1247C>T, NM_183361.3:c.1157C>T, NM_183361.2:c.1157C>T, NM_001351395.2:c.332C>T, NM_001351395.1:c.332C>T, NM_001351389.2:c.1157C>T, NM_001351389.1:c.1157C>T, NM_001320936.2:c.1247C>T, NM_001320936.1:c.1247C>T, NR_147180.2:n.1350C>T, NR_147180.1:n.1420C>T, NM_001256303.2:c.1247C>T, NM_001256303.1:c.1247C>T, NM_001320934.2:c.1157C>T, NM_001320934.1:c.1157C>T, NM_001320933.2:c.1157C>T, NM_001320933.1:c.1157C>T, NM_001351387.2:c.1157C>T, NM_001351387.1:c.1157C>T, NM_001256308.2:c.1076C>T, NM_001256308.1:c.1076C>T, NM_001351388.2:c.1247C>T, NM_001351388.1:c.1247C>T, NM_001351382.2:c.1157C>T, NM_001351382.1:c.1157C>T, NM_001351385.2:c.1157C>T, NM_001351385.1:c.1157C>T, NM_001351383.2:c.1157C>T, NM_001351383.1:c.1157C>T, NM_001351386.2:c.1157C>T, NM_001351386.1:c.1157C>T, NM_001351384.2:c.1247C>T, NM_001351384.1:c.1247C>T, NM_001351381.2:c.716C>T, NM_001351381.1:c.716C>T, NM_001351392.2:c.716C>T, NM_001351392.1:c.716C>T, NM_001320932.2:c.635C>T, NM_001320932.1:c.635C>T, NM_001351390.2:c.1157C>T, NM_001351390.1:c.1157C>T, NM_001320935.2:c.635C>T, NM_001320935.1:c.635C>T, NM_001351393.2:c.716C>T, NM_001351393.1:c.716C>T, NM_001351391.2:c.1157C>T, NM_001351391.1:c.1157C>T, NM_001351394.2:c.1247C>T, NM_001351394.1:c.1247C>T, NM_001394686.1:c.806C>T, NP_068707.1:p.Ala416Val, NP_149159.2:p.Ala416Val, NP_149160.1:p.Ala386Val, NP_899204.1:p.Ala416Val, NP_001243233.1:p.Ala416Val, NP_899205.1:p.Ala386Val, NP_001338324.1:p.Ala111Val, NP_001338318.1:p.Ala386Val, NP_001307865.1:p.Ala416Val, NP_001243232.1:p.Ala416Val, NP_001307863.1:p.Ala386Val, NP_001307862.1:p.Ala386Val, NP_001338316.1:p.Ala386Val, NP_001243237.1:p.Ala359Val, NP_001338317.1:p.Ala416Val, NP_001338311.1:p.Ala386Val, NP_001338314.1:p.Ala386Val, NP_001338312.1:p.Ala386Val, NP_001338315.1:p.Ala386Val, NP_001338313.1:p.Ala416Val, NP_001338310.1:p.Ala239Val, NP_001338321.1:p.Ala239Val, NP_001307861.1:p.Ala212Val, NP_001338319.1:p.Ala386Val, NP_001307864.1:p.Ala212Val, NP_001338322.1:p.Ala239Val, NP_001338320.1:p.Ala386Val, NP_001338323.1:p.Ala416Val, NP_001381615.1:p.Ala269Val

Select item 146648857220.

rs1466488572 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:25639046 (GRCh38)
2:25861915 (GRCh37)
Canonical SPDI:: NC_000002.12:25639045:C:T
Gene:: DTNB (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,missense_variant,non_coding_transcript_variant
HGVS:: NC_000002.12:g.25639046C>T, NC_000002.11:g.25861915C>T, NM_021907.5:c.116G>A, NM_021907.4:c.116G>A, NM_033147.4:c.116G>A, NM_033147.3:c.116G>A, NM_033148.4:c.116G>A, NM_033148.3:c.116G>A, NM_183360.3:c.116G>A, NM_183360.2:c.116G>A, NM_001256304.3:c.116G>A, NM_001256304.2:c.116G>A, NM_001256304.1:c.116G>A, NM_183361.3:c.116G>A, NM_183361.2:c.116G>A, NM_001351395.2:c.-2168G>A, NM_001351395.1:c.-2168G>A, NM_001351389.2:c.116G>A, NM_001351389.1:c.116G>A, NM_001320936.2:c.116G>A, NM_001320936.1:c.116G>A, NR_147180.2:n.309G>A, NR_147180.1:n.379G>A, NM_001256303.2:c.116G>A, NM_001256303.1:c.116G>A, NM_001320934.2:c.116G>A, NM_001320934.1:c.116G>A, NM_001320933.2:c.116G>A, NM_001320933.1:c.116G>A, NM_001351387.2:c.116G>A, NM_001351387.1:c.116G>A, NM_001256308.2:c.-56G>A, NM_001256308.1:c.-56G>A, NM_001351388.2:c.116G>A, NM_001351388.1:c.116G>A, NM_001351382.2:c.116G>A, NM_001351382.1:c.116G>A, NM_001351385.2:c.116G>A, NM_001351385.1:c.116G>A, NM_001351383.2:c.116G>A, NM_001351383.1:c.116G>A, NM_001351386.2:c.116G>A, NM_001351386.1:c.116G>A, NM_001351384.2:c.116G>A, NM_001351384.1:c.116G>A, NM_001351381.2:c.-240G>A, NM_001351381.1:c.-240G>A, NM_001351392.2:c.-240G>A, NM_001351392.1:c.-240G>A, NM_001320932.2:c.-342G>A, NM_001320932.1:c.-342G>A, NM_001351390.2:c.116G>A, NM_001351390.1:c.116G>A, NM_001320935.2:c.-256G>A, NM_001320935.1:c.-256G>A, NM_001351393.2:c.-240G>A, NM_001351393.1:c.-240G>A, NM_001351391.2:c.116G>A, NM_001351391.1:c.116G>A, NM_001351394.2:c.116G>A, NM_001351394.1:c.116G>A, NM_001320937.2:c.116G>A, NM_001320937.1:c.116G>A, NM_001394686.1:c.-240G>A, NP_068707.1:p.Cys39Tyr, NP_149159.2:p.Cys39Tyr, NP_149160.1:p.Cys39Tyr, NP_899204.1:p.Cys39Tyr, NP_001243233.1:p.Cys39Tyr, NP_899205.1:p.Cys39Tyr, NP_001338318.1:p.Cys39Tyr, NP_001307865.1:p.Cys39Tyr, NP_001243232.1:p.Cys39Tyr, NP_001307863.1:p.Cys39Tyr, NP_001307862.1:p.Cys39Tyr, NP_001338316.1:p.Cys39Tyr, NP_001338317.1:p.Cys39Tyr, NP_001338311.1:p.Cys39Tyr, NP_001338314.1:p.Cys39Tyr, NP_001338312.1:p.Cys39Tyr, NP_001338315.1:p.Cys39Tyr, NP_001338313.1:p.Cys39Tyr, NP_001338319.1:p.Cys39Tyr, NP_001338320.1:p.Cys39Tyr, NP_001338323.1:p.Cys39Tyr, NP_001307866.1:p.Cys39Tyr

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