SNP Links for Protein (Select 1019033668) - SNP

Select item 14894084491.

rs1489408449 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:197912705 (GRCh38)
3:197639576 (GRCh37)
Canonical SPDI:: NC_000003.12:197912704:C:T
Gene:: IQCG (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.197912705C>T, NC_000003.11:g.197639576C>T, NG_033072.1:g.52311G>A, NM_032263.5:c.933G>A, NM_032263.4:c.933G>A, NM_032263.3:c.933G>A, NM_001134435.3:c.933G>A, NM_001134435.2:c.933G>A, NM_001323027.2:c.933G>A, NM_001323027.1:c.933G>A, NM_001323029.2:c.639G>A, NM_001323029.1:c.639G>A, NM_001323028.2:c.876G>A, NM_001323028.1:c.876G>A, NG_083259.1:g.175C>T, XM_024453790.2:c.933G>A, XM_024453790.1:c.933G>A, NM_025111.1:c.933G>A, XR_007095755.1:n.1426G>A, XR_007095756.1:n.1175G>A

Select item 14884402212.

rs1488440221 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:197914038 (GRCh38)
3:197640909 (GRCh37)
Canonical SPDI:: NC_000003.12:197914037:T:C
Gene:: IQCG (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.197914038T>C, NC_000003.11:g.197640909T>C, NG_033072.1:g.50978A>G, NM_032263.5:c.731A>G, NM_032263.4:c.731A>G, NM_032263.3:c.731A>G, NM_001134435.3:c.731A>G, NM_001134435.2:c.731A>G, NM_001323027.2:c.731A>G, NM_001323027.1:c.731A>G, NM_001323029.2:c.437A>G, NM_001323029.1:c.437A>G, NM_001323028.2:c.674A>G, NM_001323028.1:c.674A>G, NM_001323030.2:c.731A>G, NM_001323030.1:c.731A>G, XM_024453790.2:c.731A>G, XM_024453790.1:c.731A>G, NM_025111.1:c.731A>G, XR_007095755.1:n.1128A>G, XR_007095756.1:n.877A>G, NP_115639.1:p.Gln244Arg, NP_001127907.1:p.Gln244Arg, NP_001309956.1:p.Gln244Arg, NP_001309958.1:p.Gln146Arg, NP_001309957.1:p.Gln225Arg, NP_001309959.1:p.Gln244Arg, XP_024309558.1:p.Gln244Arg

Select item 14874600213.

rs1487460021 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:197932239 (GRCh38)
3:197659110 (GRCh37)
Canonical SPDI:: NC_000003.12:197932238:G:A
Gene:: IQCG (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.197932239G>A, NC_000003.11:g.197659110G>A, NG_033072.1:g.32777C>T, NM_032263.5:c.579C>T, NM_032263.4:c.579C>T, NM_032263.3:c.579C>T, NM_001134435.3:c.579C>T, NM_001134435.2:c.579C>T, NM_001323027.2:c.579C>T, NM_001323027.1:c.579C>T, NM_001323029.2:c.285C>T, NM_001323029.1:c.285C>T, NM_001323028.2:c.522C>T, NM_001323028.1:c.522C>T, NM_001323030.2:c.579C>T, NM_001323030.1:c.579C>T, XM_024453790.2:c.579C>T, XM_024453790.1:c.579C>T, NM_025111.1:c.579C>T, XR_007095755.1:n.976C>T, XR_007095756.1:n.725C>T

Select item 14863949714.

rs1486394971 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:197891495 (GRCh38)
3:197618366 (GRCh37)
Canonical SPDI:: NC_000003.12:197891494:C:T
Gene:: IQCG (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.197891495C>T, NC_000003.11:g.197618366C>T, NG_033072.1:g.73521G>A, NM_032263.5:c.1148G>A, NM_032263.4:c.1148G>A, NM_032263.3:c.1148G>A, NM_001134435.3:c.1148G>A, NM_001134435.2:c.1148G>A, NM_001323027.2:c.1148G>A, NM_001323027.1:c.1148G>A, NM_001323029.2:c.854G>A, NM_001323029.1:c.854G>A, NM_001323028.2:c.1091G>A, NM_001323028.1:c.1091G>A, XM_024453790.2:c.1148G>A, XM_024453790.1:c.1148G>A, NM_025111.1:c.1148G>A, NP_115639.1:p.Ser383Asn, NP_001127907.1:p.Ser383Asn, NP_001309956.1:p.Ser383Asn, NP_001309958.1:p.Ser285Asn, NP_001309957.1:p.Ser364Asn, XP_024309558.1:p.Ser383Asn

Select item 14840501475.

rs1484050147 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 3:197938705 (GRCh38)
3:197665576 (GRCh37)
Canonical SPDI:: NC_000003.12:197938704:T:A
Gene:: IQCG (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.197938705T>A, NC_000003.11:g.197665576T>A, NG_033072.1:g.26311A>T, NM_032263.5:c.358A>T, NM_032263.4:c.358A>T, NM_032263.3:c.358A>T, NM_001134435.3:c.358A>T, NM_001134435.2:c.358A>T, NM_001323027.2:c.358A>T, NM_001323027.1:c.358A>T, NM_001323029.2:c.64A>T, NM_001323029.1:c.64A>T, NM_001323028.2:c.301A>T, NM_001323028.1:c.301A>T, NM_001323030.2:c.358A>T, NM_001323030.1:c.358A>T, XM_024453790.2:c.358A>T, XM_024453790.1:c.358A>T, NM_025111.1:c.358A>T, XR_007095755.1:n.755A>T, XR_007095756.1:n.504A>T, NP_115639.1:p.Ser120Cys, NP_001127907.1:p.Ser120Cys, NP_001309956.1:p.Ser120Cys, NP_001309958.1:p.Ser22Cys, NP_001309957.1:p.Ser101Cys, NP_001309959.1:p.Ser120Cys, XP_024309558.1:p.Ser120Cys

Select item 14807780286.

rs1480778028 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:197943965 (GRCh38)
3:197670836 (GRCh37)
Canonical SPDI:: NC_000003.12:197943964:A:G
Gene:: IQCG (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.197943965A>G, NC_000003.11:g.197670836A>G, NG_033072.1:g.21051T>C, NM_032263.5:c.95T>C, NM_032263.4:c.95T>C, NM_032263.3:c.95T>C, NM_001134435.3:c.95T>C, NM_001134435.2:c.95T>C, NM_001323027.2:c.95T>C, NM_001323027.1:c.95T>C, NM_001323029.2:c.-221T>C, NM_001323029.1:c.-221T>C, NM_001323028.2:c.38T>C, NM_001323028.1:c.38T>C, NM_001323030.2:c.95T>C, NM_001323030.1:c.95T>C, XM_024453790.2:c.95T>C, XM_024453790.1:c.95T>C, NM_025111.1:c.95T>C, XR_007095755.1:n.492T>C, XR_007095756.1:n.241T>C, NP_115639.1:p.Val32Ala, NP_001127907.1:p.Val32Ala, NP_001309956.1:p.Val32Ala, NP_001309957.1:p.Val13Ala, NP_001309959.1:p.Val32Ala, XP_024309558.1:p.Val32Ala

Select item 14795331307.

rs1479533130 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:197913902 (GRCh38)
3:197640773 (GRCh37)
Canonical SPDI:: NC_000003.12:197913901:T:C
Gene:: IQCG (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_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_000003.12:g.197913902T>C, NC_000003.11:g.197640773T>C, NG_033072.1:g.51114A>G, NM_032263.5:c.867A>G, NM_032263.4:c.867A>G, NM_032263.3:c.867A>G, NM_001134435.3:c.867A>G, NM_001134435.2:c.867A>G, NM_001323027.2:c.867A>G, NM_001323027.1:c.867A>G, NM_001323029.2:c.573A>G, NM_001323029.1:c.573A>G, NM_001323028.2:c.810A>G, NM_001323028.1:c.810A>G, NM_001323030.2:c.867A>G, NM_001323030.1:c.867A>G, NG_083259.1:g.1372T>C, XM_024453790.2:c.867A>G, XM_024453790.1:c.867A>G, NM_025111.1:c.867A>G, XR_007095755.1:n.1264A>G, XR_007095756.1:n.1013A>G

Select item 14783640108.

rs1478364010 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 3:197891461 (GRCh38)
3:197618332 (GRCh37)
Canonical SPDI:: NC_000003.12:197891460:T:C,NC_000003.12:197891460:T:G
Gene:: IQCG (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000003.12:g.197891461T>C, NC_000003.12:g.197891461T>G, NC_000003.11:g.197618332T>C, NC_000003.11:g.197618332T>G, NG_033072.1:g.73555A>G, NG_033072.1:g.73555A>C, NM_032263.5:c.1182A>G, NM_032263.5:c.1182A>C, NM_032263.4:c.1182A>G, NM_032263.4:c.1182A>C, NM_032263.3:c.1182A>G, NM_032263.3:c.1182A>C, NM_001134435.3:c.1182A>G, NM_001134435.3:c.1182A>C, NM_001134435.2:c.1182A>G, NM_001134435.2:c.1182A>C, NM_001323027.2:c.1182A>G, NM_001323027.2:c.1182A>C, NM_001323027.1:c.1182A>G, NM_001323027.1:c.1182A>C, NM_001323029.2:c.888A>G, NM_001323029.2:c.888A>C, NM_001323029.1:c.888A>G, NM_001323029.1:c.888A>C, NM_001323028.2:c.1125A>G, NM_001323028.2:c.1125A>C, NM_001323028.1:c.1125A>G, NM_001323028.1:c.1125A>C, XM_024453790.2:c.1182A>G, XM_024453790.2:c.1182A>C, XM_024453790.1:c.1182A>G, XM_024453790.1:c.1182A>C, NM_025111.1:c.1182A>G, NM_025111.1:c.1182A>C, NP_115639.1:p.Leu394Phe, NP_001127907.1:p.Leu394Phe, NP_001309956.1:p.Leu394Phe, NP_001309958.1:p.Leu296Phe, NP_001309957.1:p.Leu375Phe, XP_024309558.1:p.Leu394Phe

Select item 14778684069.

rs1477868406 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:197938720 (GRCh38)
3:197665591 (GRCh37)
Canonical SPDI:: NC_000003.12:197938719:T:C
Gene:: IQCG (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.197938720T>C, NC_000003.11:g.197665591T>C, NG_033072.1:g.26296A>G, NM_032263.5:c.343A>G, NM_032263.4:c.343A>G, NM_032263.3:c.343A>G, NM_001134435.3:c.343A>G, NM_001134435.2:c.343A>G, NM_001323027.2:c.343A>G, NM_001323027.1:c.343A>G, NM_001323029.2:c.49A>G, NM_001323029.1:c.49A>G, NM_001323028.2:c.286A>G, NM_001323028.1:c.286A>G, NM_001323030.2:c.343A>G, NM_001323030.1:c.343A>G, XM_024453790.2:c.343A>G, XM_024453790.1:c.343A>G, XR_007095755.1:n.740A>G, XR_007095756.1:n.489A>G, NP_115639.1:p.Ile115Val, NP_001127907.1:p.Ile115Val, NP_001309956.1:p.Ile115Val, NP_001309958.1:p.Ile17Val, NP_001309957.1:p.Ile96Val, NP_001309959.1:p.Ile115Val, XP_024309558.1:p.Ile115Val

Select item 147688491510.

rs1476884915 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:197943974 (GRCh38)
3:197670845 (GRCh37)
Canonical SPDI:: NC_000003.12:197943973:G:C
Gene:: IQCG (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.197943974G>C, NC_000003.11:g.197670845G>C, NG_033072.1:g.21042C>G, NM_032263.5:c.86C>G, NM_032263.4:c.86C>G, NM_032263.3:c.86C>G, NM_001134435.3:c.86C>G, NM_001134435.2:c.86C>G, NM_001323027.2:c.86C>G, NM_001323027.1:c.86C>G, NM_001323029.2:c.-230C>G, NM_001323029.1:c.-230C>G, NM_001323028.2:c.29C>G, NM_001323028.1:c.29C>G, NM_001323030.2:c.86C>G, NM_001323030.1:c.86C>G, XM_024453790.2:c.86C>G, XM_024453790.1:c.86C>G, NM_025111.1:c.86C>G, XR_007095755.1:n.483C>G, XR_007095756.1:n.232C>G, NP_115639.1:p.Pro29Arg, NP_001127907.1:p.Pro29Arg, NP_001309956.1:p.Pro29Arg, NP_001309957.1:p.Pro10Arg, NP_001309959.1:p.Pro29Arg, XP_024309558.1:p.Pro29Arg

Select item 147539930211.

rs1475399302 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 3:197889592 (GRCh38)
3:197616463 (GRCh37)
Canonical SPDI:: NC_000003.12:197889591:G:A,NC_000003.12:197889591:G:C,NC_000003.12:197889591:G:T
Gene:: IQCG (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
T=0.000011/3 (TOPMED)
A=0.000212/4 (TOMMO)
HGVS:: NC_000003.12:g.197889592G>A, NC_000003.12:g.197889592G>C, NC_000003.12:g.197889592G>T, NC_000003.11:g.197616463G>A, NC_000003.11:g.197616463G>C, NC_000003.11:g.197616463G>T, NG_033072.1:g.75424C>T, NG_033072.1:g.75424C>G, NG_033072.1:g.75424C>A, NM_032263.5:c.1320C>T, NM_032263.5:c.1320C>G, NM_032263.5:c.1320C>A, NM_032263.4:c.1320C>T, NM_032263.4:c.1320C>G, NM_032263.4:c.1320C>A, NM_032263.3:c.1320C>T, NM_032263.3:c.1320C>G, NM_032263.3:c.1320C>A, NM_001134435.3:c.1320C>T, NM_001134435.3:c.1320C>G, NM_001134435.3:c.1320C>A, NM_001134435.2:c.1320C>T, NM_001134435.2:c.1320C>G, NM_001134435.2:c.1320C>A, NM_001323027.2:c.1320C>T, NM_001323027.2:c.1320C>G, NM_001323027.2:c.1320C>A, NM_001323027.1:c.1320C>T, NM_001323027.1:c.1320C>G, NM_001323027.1:c.1320C>A, NM_001323029.2:c.1026C>T, NM_001323029.2:c.1026C>G, NM_001323029.2:c.1026C>A, NM_001323029.1:c.1026C>T, NM_001323029.1:c.1026C>G, NM_001323029.1:c.1026C>A, NM_001323028.2:c.1263C>T, NM_001323028.2:c.1263C>G, NM_001323028.2:c.1263C>A, NM_001323028.1:c.1263C>T, NM_001323028.1:c.1263C>G, NM_001323028.1:c.1263C>A, XM_024453790.2:c.1320C>T, XM_024453790.2:c.1320C>G, XM_024453790.2:c.1320C>A, XM_024453790.1:c.1320C>T, XM_024453790.1:c.1320C>G, XM_024453790.1:c.1320C>A, NM_025111.1:c.1320C>T, NM_025111.1:c.1320C>G, NM_025111.1:c.1320C>A

Select item 146926311312.

rs1469263113 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:197913981 (GRCh38)
3:197640852 (GRCh37)
Canonical SPDI:: NC_000003.12:197913980:T:C
Gene:: IQCG (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.197913981T>C, NC_000003.11:g.197640852T>C, NG_033072.1:g.51035A>G, NM_032263.5:c.788A>G, NM_032263.4:c.788A>G, NM_032263.3:c.788A>G, NM_001134435.3:c.788A>G, NM_001134435.2:c.788A>G, NM_001323027.2:c.788A>G, NM_001323027.1:c.788A>G, NM_001323029.2:c.494A>G, NM_001323029.1:c.494A>G, NM_001323028.2:c.731A>G, NM_001323028.1:c.731A>G, NM_001323030.2:c.788A>G, NM_001323030.1:c.788A>G, XM_024453790.2:c.788A>G, XM_024453790.1:c.788A>G, NM_025111.1:c.788A>G, XR_007095755.1:n.1185A>G, XR_007095756.1:n.934A>G, NP_115639.1:p.Asn263Ser, NP_001127907.1:p.Asn263Ser, NP_001309956.1:p.Asn263Ser, NP_001309958.1:p.Asn165Ser, NP_001309957.1:p.Asn244Ser, NP_001309959.1:p.Asn263Ser, XP_024309558.1:p.Asn263Ser

Select item 146819279813.

rs1468192798 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:197914012 (GRCh38)
3:197640883 (GRCh37)
Canonical SPDI:: NC_000003.12:197914011:C:T
Gene:: IQCG (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.197914012C>T, NC_000003.11:g.197640883C>T, NG_033072.1:g.51004G>A, NM_032263.5:c.757G>A, NM_032263.4:c.757G>A, NM_032263.3:c.757G>A, NM_001134435.3:c.757G>A, NM_001134435.2:c.757G>A, NM_001323027.2:c.757G>A, NM_001323027.1:c.757G>A, NM_001323029.2:c.463G>A, NM_001323029.1:c.463G>A, NM_001323028.2:c.700G>A, NM_001323028.1:c.700G>A, NM_001323030.2:c.757G>A, NM_001323030.1:c.757G>A, XM_024453790.2:c.757G>A, XM_024453790.1:c.757G>A, NM_025111.1:c.757G>A, XR_007095755.1:n.1154G>A, XR_007095756.1:n.903G>A, NP_115639.1:p.Asp253Asn, NP_001127907.1:p.Asp253Asn, NP_001309956.1:p.Asp253Asn, NP_001309958.1:p.Asp155Asn, NP_001309957.1:p.Asp234Asn, NP_001309959.1:p.Asp253Asn, XP_024309558.1:p.Asp253Asn

Select item 146717165614.

rs1467171656 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:197889687 (GRCh38)
3:197616558 (GRCh37)
Canonical SPDI:: NC_000003.12:197889686:T:C
Gene:: IQCG (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.197889687T>C, NC_000003.11:g.197616558T>C, NG_033072.1:g.75329A>G, NM_032263.5:c.1225A>G, NM_032263.4:c.1225A>G, NM_032263.3:c.1225A>G, NM_001134435.3:c.1225A>G, NM_001134435.2:c.1225A>G, NM_001323027.2:c.1225A>G, NM_001323027.1:c.1225A>G, NM_001323029.2:c.931A>G, NM_001323029.1:c.931A>G, NM_001323028.2:c.1168A>G, NM_001323028.1:c.1168A>G, XM_024453790.2:c.1225A>G, XM_024453790.1:c.1225A>G, NM_025111.1:c.1225A>G, NP_115639.1:p.Ile409Val, NP_001127907.1:p.Ile409Val, NP_001309956.1:p.Ile409Val, NP_001309958.1:p.Ile311Val, NP_001309957.1:p.Ile390Val, XP_024309558.1:p.Ile409Val

Select item 146613412415.

rs1466134124 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:197938643 (GRCh38)
3:197665514 (GRCh37)
Canonical SPDI:: NC_000003.12:197938642:A:G
Gene:: IQCG (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
HGVS:: NC_000003.12:g.197938643A>G, NC_000003.11:g.197665514A>G, NG_033072.1:g.26373T>C, NM_032263.5:c.420T>C, NM_032263.4:c.420T>C, NM_032263.3:c.420T>C, NM_001134435.3:c.420T>C, NM_001134435.2:c.420T>C, NM_001323027.2:c.420T>C, NM_001323027.1:c.420T>C, NM_001323029.2:c.126T>C, NM_001323029.1:c.126T>C, NM_001323028.2:c.363T>C, NM_001323028.1:c.363T>C, NM_001323030.2:c.420T>C, NM_001323030.1:c.420T>C, XM_024453790.2:c.420T>C, XM_024453790.1:c.420T>C, NM_025111.1:c.420T>C, XR_007095755.1:n.817T>C, XR_007095756.1:n.566T>C

Select item 146569985716.

rs1465699857 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 3:197913884 (GRCh38)
3:197640755 (GRCh37)
Canonical SPDI:: NC_000003.12:197913883:A:C
Gene:: IQCG (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.197913884A>C, NC_000003.11:g.197640755A>C, NG_033072.1:g.51132T>G, NM_032263.5:c.885T>G, NM_032263.4:c.885T>G, NM_032263.3:c.885T>G, NM_001134435.3:c.885T>G, NM_001134435.2:c.885T>G, NM_001323027.2:c.885T>G, NM_001323027.1:c.885T>G, NM_001323029.2:c.591T>G, NM_001323029.1:c.591T>G, NM_001323028.2:c.828T>G, NM_001323028.1:c.828T>G, NM_001323030.2:c.885T>G, NM_001323030.1:c.885T>G, NG_083259.1:g.1354A>C, XM_024453790.2:c.885T>G, XM_024453790.1:c.885T>G, NM_025111.1:c.885T>G, XR_007095755.1:n.1282T>G, XR_007095756.1:n.1031T>G, NP_115639.1:p.Ile295Met, NP_001127907.1:p.Ile295Met, NP_001309956.1:p.Ile295Met, NP_001309958.1:p.Ile197Met, NP_001309957.1:p.Ile276Met, NP_001309959.1:p.Ile295Met, XP_024309558.1:p.Ile295Met

Select item 146457378417.

rs1464573784 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:197943912 (GRCh38)
3:197670783 (GRCh37)
Canonical SPDI:: NC_000003.12:197943911:G:A
Gene:: IQCG (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.197943912G>A, NC_000003.11:g.197670783G>A, NG_033072.1:g.21104C>T, NM_032263.5:c.148C>T, NM_032263.4:c.148C>T, NM_032263.3:c.148C>T, NM_001134435.3:c.148C>T, NM_001134435.2:c.148C>T, NM_001323027.2:c.148C>T, NM_001323027.1:c.148C>T, NM_001323029.2:c.-168C>T, NM_001323029.1:c.-168C>T, NM_001323028.2:c.91C>T, NM_001323028.1:c.91C>T, NM_001323030.2:c.148C>T, NM_001323030.1:c.148C>T, XM_024453790.2:c.148C>T, XM_024453790.1:c.148C>T, NM_025111.1:c.148C>T, XR_007095755.1:n.545C>T, XR_007095756.1:n.294C>T, NP_115639.1:p.Pro50Ser, NP_001127907.1:p.Pro50Ser, NP_001309956.1:p.Pro50Ser, NP_001309957.1:p.Pro31Ser, NP_001309959.1:p.Pro50Ser, XP_024309558.1:p.Pro50Ser

Select item 146194427518.

rs1461944275 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:197892728 (GRCh38)
3:197619599 (GRCh37)
Canonical SPDI:: NC_000003.12:197892727:T:C
Gene:: IQCG (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000021/3 (GnomAD)
C=0.001092/2 (Korea1K)
HGVS:: NC_000003.12:g.197892728T>C, NC_000003.11:g.197619599T>C, NG_033072.1:g.72288A>G, NM_032263.5:c.995A>G, NM_032263.4:c.995A>G, NM_032263.3:c.995A>G, NM_001134435.3:c.995A>G, NM_001134435.2:c.995A>G, NM_001323027.2:c.995A>G, NM_001323027.1:c.995A>G, NM_001323029.2:c.701A>G, NM_001323029.1:c.701A>G, NM_001323028.2:c.938A>G, NM_001323028.1:c.938A>G, XM_024453790.2:c.995A>G, XM_024453790.1:c.995A>G, NM_025111.1:c.995A>G, XR_007095755.1:n.1488A>G, XR_007095756.1:n.1237A>G, NP_115639.1:p.Glu332Gly, NP_001127907.1:p.Glu332Gly, NP_001309956.1:p.Glu332Gly, NP_001309958.1:p.Glu234Gly, NP_001309957.1:p.Glu313Gly, XP_024309558.1:p.Glu332Gly

Select item 146167603519.

rs1461676035 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:197938615 (GRCh38)
3:197665486 (GRCh37)
Canonical SPDI:: NC_000003.12:197938614:C:A
Gene:: IQCG (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.197938615C>A, NC_000003.11:g.197665486C>A, NG_033072.1:g.26401G>T, NM_032263.5:c.448G>T, NM_032263.4:c.448G>T, NM_032263.3:c.448G>T, NM_001134435.3:c.448G>T, NM_001134435.2:c.448G>T, NM_001323027.2:c.448G>T, NM_001323027.1:c.448G>T, NM_001323029.2:c.154G>T, NM_001323029.1:c.154G>T, NM_001323028.2:c.391G>T, NM_001323028.1:c.391G>T, NM_001323030.2:c.448G>T, NM_001323030.1:c.448G>T, XM_024453790.2:c.448G>T, XM_024453790.1:c.448G>T, NM_025111.1:c.448G>T, XR_007095755.1:n.845G>T, XR_007095756.1:n.594G>T, NP_115639.1:p.Val150Phe, NP_001127907.1:p.Val150Phe, NP_001309956.1:p.Val150Phe, NP_001309958.1:p.Val52Phe, NP_001309957.1:p.Val131Phe, NP_001309959.1:p.Val150Phe, XP_024309558.1:p.Val150Phe

Select item 146039315320.

rs1460393153 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:197913934 (GRCh38)
3:197640805 (GRCh37)
Canonical SPDI:: NC_000003.12:197913933:G:A
Gene:: IQCG (Varview)
Functional Consequence:: stop_gained,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000068/3 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.197913934G>A, NC_000003.11:g.197640805G>A, NG_033072.1:g.51082C>T, NM_032263.5:c.835C>T, NM_032263.4:c.835C>T, NM_032263.3:c.835C>T, NM_001134435.3:c.835C>T, NM_001134435.2:c.835C>T, NM_001323027.2:c.835C>T, NM_001323027.1:c.835C>T, NM_001323029.2:c.541C>T, NM_001323029.1:c.541C>T, NM_001323028.2:c.778C>T, NM_001323028.1:c.778C>T, NM_001323030.2:c.835C>T, NM_001323030.1:c.835C>T, XM_024453790.2:c.835C>T, XM_024453790.1:c.835C>T, NM_025111.1:c.835C>T, XR_007095755.1:n.1232C>T, XR_007095756.1:n.981C>T, NP_115639.1:p.Gln279Ter, NP_001127907.1:p.Gln279Ter, NP_001309956.1:p.Gln279Ter, NP_001309958.1:p.Gln181Ter, NP_001309957.1:p.Gln260Ter, NP_001309959.1:p.Gln279Ter, XP_024309558.1:p.Gln279Ter

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Items: 1 to 20 of 435

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