SNP Links for Protein (Select 24497519) - SNP

Links from Protein

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Select item 14895539721.

rs1489553972 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:119301990 (GRCh38)
6:119623155 (GRCh37)
Canonical SPDI:: NC_000006.12:119301989:C:T
Gene:: MAN1A1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000035/1 (TOMMO)
HGVS:: NC_000006.12:g.119301990C>T, NC_000006.11:g.119623155C>T, XM_005266986.5:c.1063G>A, XM_005266986.4:c.1063G>A, XM_005266986.3:c.1063G>A, XM_005266986.2:c.1063G>A, XM_005266986.1:c.1063G>A, NM_005907.4:c.814G>A, NM_005907.3:c.814G>A, XM_011535833.3:c.247G>A, XM_011535833.2:c.247G>A, XM_011535833.1:c.247G>A, XM_047418775.1:c.1063G>A, XP_005267043.1:p.Val355Met, NP_005898.2:p.Val272Met, XP_011534135.1:p.Val83Met, XP_047274731.1:p.Val355Met

Select item 14894246302.

rs1489424630 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 6:119348501 (GRCh38)
6:119669666 (GRCh37)
Canonical SPDI:: NC_000006.12:119348500:C:G,NC_000006.12:119348500:C:T
Gene:: MAN1A1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.119348501C>G, NC_000006.12:g.119348501C>T, NC_000006.11:g.119669666C>G, NC_000006.11:g.119669666C>T, XM_005266986.5:c.814G>C, XM_005266986.5:c.814G>A, XM_005266986.4:c.814G>C, XM_005266986.4:c.814G>A, XM_005266986.3:c.814G>C, XM_005266986.3:c.814G>A, XM_005266986.2:c.814G>C, XM_005266986.2:c.814G>A, XM_005266986.1:c.814G>C, XM_005266986.1:c.814G>A, NM_005907.4:c.565G>C, NM_005907.4:c.565G>A, NM_005907.3:c.565G>C, NM_005907.3:c.565G>A, XM_047418775.1:c.814G>C, XM_047418775.1:c.814G>A, XP_005267043.1:p.Asp272His, XP_005267043.1:p.Asp272Asn, NP_005898.2:p.Asp189His, NP_005898.2:p.Asp189Asn, XP_047274731.1:p.Asp272His, XP_047274731.1:p.Asp272Asn

Select item 14881005943.

rs1488100594 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 6:119193881 (GRCh38)
6:119515046 (GRCh37)
Canonical SPDI:: NC_000006.12:119193880:C:A,NC_000006.12:119193880:C:G
Gene:: MAN1A1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
A=0.000017/2 (ExAC)
HGVS:: NC_000006.12:g.119193881C>A, NC_000006.12:g.119193881C>G, NC_000006.11:g.119515046C>A, NC_000006.11:g.119515046C>G, XM_005266986.5:c.1471G>T, XM_005266986.5:c.1471G>C, XM_005266986.4:c.1471G>T, XM_005266986.4:c.1471G>C, XM_005266986.3:c.1471G>T, XM_005266986.3:c.1471G>C, XM_005266986.2:c.1471G>T, XM_005266986.2:c.1471G>C, XM_005266986.1:c.1471G>T, XM_005266986.1:c.1471G>C, NM_005907.4:c.1222G>T, NM_005907.4:c.1222G>C, NM_005907.3:c.1222G>T, NM_005907.3:c.1222G>C, XM_011535833.3:c.655G>T, XM_011535833.3:c.655G>C, XM_011535833.2:c.655G>T, XM_011535833.2:c.655G>C, XM_011535833.1:c.655G>T, XM_011535833.1:c.655G>C, XP_005267043.1:p.Val491Phe, XP_005267043.1:p.Val491Leu, NP_005898.2:p.Val408Phe, NP_005898.2:p.Val408Leu, XP_011534135.1:p.Val219Phe, XP_011534135.1:p.Val219Leu

Select item 14872277554.

rs1487227755 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 6:119348510 (GRCh38)
6:119669675 (GRCh37)
Canonical SPDI:: NC_000006.12:119348509:C:G,NC_000006.12:119348509:C:T
Gene:: MAN1A1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
T=0.00006/1 (TOMMO)
HGVS:: NC_000006.12:g.119348510C>G, NC_000006.12:g.119348510C>T, NC_000006.11:g.119669675C>G, NC_000006.11:g.119669675C>T, XM_005266986.5:c.805G>C, XM_005266986.5:c.805G>A, XM_005266986.4:c.805G>C, XM_005266986.4:c.805G>A, XM_005266986.3:c.805G>C, XM_005266986.3:c.805G>A, XM_005266986.2:c.805G>C, XM_005266986.2:c.805G>A, XM_005266986.1:c.805G>C, XM_005266986.1:c.805G>A, NM_005907.4:c.556G>C, NM_005907.4:c.556G>A, NM_005907.3:c.556G>C, NM_005907.3:c.556G>A, XM_047418775.1:c.805G>C, XM_047418775.1:c.805G>A, XP_005267043.1:p.Glu269Gln, XP_005267043.1:p.Glu269Lys, NP_005898.2:p.Glu186Gln, NP_005898.2:p.Glu186Lys, XP_047274731.1:p.Glu269Gln, XP_047274731.1:p.Glu269Lys

Select item 14850060375.

rs1485006037 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:119193875 (GRCh38)
6:119515040 (GRCh37)
Canonical SPDI:: NC_000006.12:119193874:C:T
Gene:: MAN1A1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.119193875C>T, NC_000006.11:g.119515040C>T, XM_005266986.5:c.1477G>A, XM_005266986.4:c.1477G>A, XM_005266986.3:c.1477G>A, XM_005266986.2:c.1477G>A, XM_005266986.1:c.1477G>A, NM_005907.4:c.1228G>A, NM_005907.3:c.1228G>A, XM_011535833.3:c.661G>A, XM_011535833.2:c.661G>A, XM_011535833.1:c.661G>A, XP_005267043.1:p.Gly493Arg, NP_005898.2:p.Gly410Arg, XP_011534135.1:p.Gly221Arg

Select item 14837266096.

rs1483726609 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:119189762 (GRCh38)
6:119510927 (GRCh37)
Canonical SPDI:: NC_000006.12:119189761:G:A
Gene:: MAN1A1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.119189762G>A, NC_000006.11:g.119510927G>A, XM_005266986.5:c.1697C>T, XM_005266986.4:c.1697C>T, XM_005266986.3:c.1697C>T, XM_005266986.2:c.1697C>T, XM_005266986.1:c.1697C>T, NM_005907.4:c.1448C>T, NM_005907.3:c.1448C>T, XM_011535833.3:c.881C>T, XM_011535833.2:c.881C>T, XM_011535833.1:c.881C>T, XP_005267043.1:p.Ala566Val, NP_005898.2:p.Ala483Val, XP_011534135.1:p.Ala294Val

Select item 14809474817.

rs1480947481 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:119302028 (GRCh38)
6:119623193 (GRCh37)
Canonical SPDI:: NC_000006.12:119302027:T:C
Gene:: MAN1A1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.119302028T>C, NC_000006.11:g.119623193T>C, XM_005266986.5:c.1025A>G, XM_005266986.4:c.1025A>G, XM_005266986.3:c.1025A>G, XM_005266986.2:c.1025A>G, XM_005266986.1:c.1025A>G, NM_005907.4:c.776A>G, NM_005907.3:c.776A>G, XM_011535833.3:c.209A>G, XM_011535833.2:c.209A>G, XM_011535833.1:c.209A>G, XM_047418775.1:c.1025A>G, XP_005267043.1:p.Glu342Gly, NP_005898.2:p.Glu259Gly, XP_011534135.1:p.Glu70Gly, XP_047274731.1:p.Glu342Gly

Select item 14793730918.

rs1479373091 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:119189846 (GRCh38)
6:119511011 (GRCh37)
Canonical SPDI:: NC_000006.12:119189845:C:T
Gene:: MAN1A1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.119189846C>T, NC_000006.11:g.119511011C>T, XM_005266986.5:c.1613G>A, XM_005266986.4:c.1613G>A, XM_005266986.3:c.1613G>A, XM_005266986.2:c.1613G>A, XM_005266986.1:c.1613G>A, NM_005907.4:c.1364G>A, NM_005907.3:c.1364G>A, XM_011535833.3:c.797G>A, XM_011535833.2:c.797G>A, XM_011535833.1:c.797G>A, XP_005267043.1:p.Gly538Glu, NP_005898.2:p.Gly455Glu, XP_011534135.1:p.Gly266Glu

Select item 14788411279.

rs1478841127 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:119348668 (GRCh38)
6:119669833 (GRCh37)
Canonical SPDI:: NC_000006.12:119348667:C:G
Gene:: MAN1A1 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.119348668C>G, NC_000006.11:g.119669833C>G, XM_005266986.5:c.647G>C, XM_005266986.4:c.647G>C, XM_005266986.3:c.647G>C, XM_005266986.2:c.647G>C, XM_005266986.1:c.647G>C, NM_005907.4:c.398G>C, NM_005907.3:c.398G>C, XM_047418775.1:c.647G>C, XP_005267043.1:p.Arg216Thr, NP_005898.2:p.Arg133Thr, XP_047274731.1:p.Arg216Thr

Select item 147879958310.

rs1478799583 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:119348964 (GRCh38)
6:119670129 (GRCh37)
Canonical SPDI:: NC_000006.12:119348963:G:T
Gene:: MAN1A1 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant
HGVS:: NC_000006.12:g.119348964G>T, NC_000006.11:g.119670129G>T, XM_005266986.5:c.351C>A, XM_005266986.4:c.351C>A, XM_005266986.3:c.351C>A, XM_005266986.2:c.351C>A, XM_005266986.1:c.351C>A, NM_005907.4:c.102C>A, NM_005907.3:c.102C>A, XM_047418775.1:c.351C>A

Select item 147784474211.

rs1477844742 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:119349028 (GRCh38)
6:119670193 (GRCh37)
Canonical SPDI:: NC_000006.12:119349027:G:A
Gene:: MAN1A1 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.119349028G>A, NC_000006.11:g.119670193G>A, XM_005266986.5:c.287C>T, XM_005266986.4:c.287C>T, XM_005266986.3:c.287C>T, XM_005266986.2:c.287C>T, XM_005266986.1:c.287C>T, NM_005907.4:c.38C>T, NM_005907.3:c.38C>T, XM_047418775.1:c.287C>T, XP_005267043.1:p.Pro96Leu, NP_005898.2:p.Pro13Leu, XP_047274731.1:p.Pro96Leu

Select item 147683163412.

rs1476831634 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:119348470 (GRCh38)
6:119669635 (GRCh37)
Canonical SPDI:: NC_000006.12:119348469:A:G
Gene:: MAN1A1 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.119348470A>G, NC_000006.11:g.119669635A>G, XM_005266986.5:c.845T>C, XM_005266986.4:c.845T>C, XM_005266986.3:c.845T>C, XM_005266986.2:c.845T>C, XM_005266986.1:c.845T>C, NM_005907.4:c.596T>C, NM_005907.3:c.596T>C, XM_047418775.1:c.845T>C, XP_005267043.1:p.Ile282Thr, NP_005898.2:p.Ile199Thr, XP_047274731.1:p.Ile282Thr

Select item 147396205013.

rs1473962050 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:119348776 (GRCh38)
6:119669941 (GRCh37)
Canonical SPDI:: NC_000006.12:119348775:G:A
Gene:: MAN1A1 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000006.12:g.119348776G>A, NC_000006.11:g.119669941G>A, XM_005266986.5:c.539C>T, XM_005266986.4:c.539C>T, XM_005266986.3:c.539C>T, XM_005266986.2:c.539C>T, XM_005266986.1:c.539C>T, NM_005907.4:c.290C>T, NM_005907.3:c.290C>T, XM_047418775.1:c.539C>T, XP_005267043.1:p.Ala180Val, NP_005898.2:p.Ala97Val, XP_047274731.1:p.Ala180Val

Select item 146662126514.

rs1466621265 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:119180329 (GRCh38)
6:119501494 (GRCh37)
Canonical SPDI:: NC_000006.12:119180328:G:C
Gene:: MAN1A1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.119180329G>C, NC_000006.11:g.119501494G>C, XM_005266986.5:c.2067C>G, XM_005266986.4:c.2067C>G, XM_005266986.3:c.2067C>G, XM_005266986.2:c.2067C>G, XM_005266986.1:c.2067C>G, NM_005907.4:c.1818C>G, NM_005907.3:c.1818C>G, XM_011535833.3:c.1251C>G, XM_011535833.2:c.1251C>G, XM_011535833.1:c.1251C>G, XP_005267043.1:p.Phe689Leu, NP_005898.2:p.Phe606Leu, XP_011534135.1:p.Phe417Leu

Select item 146530051115.

rs1465300511 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:119348615 (GRCh38)
6:119669780 (GRCh37)
Canonical SPDI:: NC_000006.12:119348614:G:A
Gene:: MAN1A1 (Varview)
Functional Consequence:: synonymous_variant,upstream_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.119348615G>A, NC_000006.11:g.119669780G>A, XM_005266986.5:c.700C>T, XM_005266986.4:c.700C>T, XM_005266986.3:c.700C>T, XM_005266986.2:c.700C>T, XM_005266986.1:c.700C>T, NM_005907.4:c.451C>T, NM_005907.3:c.451C>T, XM_047418775.1:c.700C>T

Select item 146466210316.

rs1464662103 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:119189826 (GRCh38)
6:119510991 (GRCh37)
Canonical SPDI:: NC_000006.12:119189825:A:C
Gene:: MAN1A1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.119189826A>C, NC_000006.11:g.119510991A>C, XM_005266986.5:c.1633T>G, XM_005266986.4:c.1633T>G, XM_005266986.3:c.1633T>G, XM_005266986.2:c.1633T>G, XM_005266986.1:c.1633T>G, NM_005907.4:c.1384T>G, NM_005907.3:c.1384T>G, XM_011535833.3:c.817T>G, XM_011535833.2:c.817T>G, XM_011535833.1:c.817T>G, XP_005267043.1:p.Trp545Gly, NP_005898.2:p.Trp462Gly, XP_011534135.1:p.Trp273Gly

Select item 146376745117.

rs1463767451 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:119189800 (GRCh38)
6:119510965 (GRCh37)
Canonical SPDI:: NC_000006.12:119189799:C:T
Gene:: MAN1A1 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
T=0.000071/1 (TOMMO)
HGVS:: NC_000006.12:g.119189800C>T, NC_000006.11:g.119510965C>T, XM_005266986.5:c.1659G>A, XM_005266986.4:c.1659G>A, XM_005266986.3:c.1659G>A, XM_005266986.2:c.1659G>A, XM_005266986.1:c.1659G>A, NM_005907.4:c.1410G>A, NM_005907.3:c.1410G>A, XM_011535833.3:c.843G>A, XM_011535833.2:c.843G>A, XM_011535833.1:c.843G>A

Select item 146085148918.

rs1460851489 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 6:119193797 (GRCh38)
6:119514962 (GRCh37)
Canonical SPDI:: NC_000006.12:119193796:T:A,NC_000006.12:119193796:T:C
Gene:: MAN1A1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.119193797T>A, NC_000006.12:g.119193797T>C, NC_000006.11:g.119514962T>A, NC_000006.11:g.119514962T>C, XM_005266986.5:c.1555A>T, XM_005266986.5:c.1555A>G, XM_005266986.4:c.1555A>T, XM_005266986.4:c.1555A>G, XM_005266986.3:c.1555A>T, XM_005266986.3:c.1555A>G, XM_005266986.2:c.1555A>T, XM_005266986.2:c.1555A>G, XM_005266986.1:c.1555A>T, XM_005266986.1:c.1555A>G, NM_005907.4:c.1306A>T, NM_005907.4:c.1306A>G, NM_005907.3:c.1306A>T, NM_005907.3:c.1306A>G, XM_011535833.3:c.739A>T, XM_011535833.3:c.739A>G, XM_011535833.2:c.739A>T, XM_011535833.2:c.739A>G, XM_011535833.1:c.739A>T, XM_011535833.1:c.739A>G, XP_005267043.1:p.Met519Leu, XP_005267043.1:p.Met519Val, NP_005898.2:p.Met436Leu, NP_005898.2:p.Met436Val, XP_011534135.1:p.Met247Leu, XP_011534135.1:p.Met247Val

Select item 146064631119.

rs1460646311 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:119302079 (GRCh38)
6:119623244 (GRCh37)
Canonical SPDI:: NC_000006.12:119302078:A:G
Gene:: MAN1A1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.119302079A>G, NC_000006.11:g.119623244A>G, XM_005266986.5:c.974T>C, XM_005266986.4:c.974T>C, XM_005266986.3:c.974T>C, XM_005266986.2:c.974T>C, XM_005266986.1:c.974T>C, NM_005907.4:c.725T>C, NM_005907.3:c.725T>C, XM_011535833.3:c.158T>C, XM_011535833.2:c.158T>C, XM_011535833.1:c.158T>C, XM_047418775.1:c.974T>C, XP_005267043.1:p.Val325Ala, NP_005898.2:p.Val242Ala, XP_011534135.1:p.Val53Ala, XP_047274731.1:p.Val325Ala

Select item 146028826120.

rs1460288261 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:119348894 (GRCh38)
6:119670059 (GRCh37)
Canonical SPDI:: NC_000006.12:119348893:C:T
Gene:: MAN1A1 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000006.12:g.119348894C>T, NC_000006.11:g.119670059C>T, XM_005266986.5:c.421G>A, XM_005266986.4:c.421G>A, XM_005266986.3:c.421G>A, XM_005266986.2:c.421G>A, XM_005266986.1:c.421G>A, NM_005907.4:c.172G>A, NM_005907.3:c.172G>A, XM_047418775.1:c.421G>A, XP_005267043.1:p.Ala141Thr, NP_005898.2:p.Ala58Thr, XP_047274731.1:p.Ala141Thr

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