SNP Links for Protein (Select 530380180) - SNP

Links from Protein

Items: 1 to 20 of 483

<< First< Prev

Page of 25

Next >Last >>

Select item 14886703151.

rs1488670315 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 5:103559416 (GRCh38)
5:102895117 (GRCh37)
Canonical SPDI:: NC_000005.10:103559415:C:A
Gene:: NUDT12 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.103559416C>A, NC_000005.9:g.102895117C>A, NM_031438.4:c.259G>T, NM_031438.3:c.259G>T, NM_031438.2:c.259G>T, XM_005272097.4:c.205G>T, XM_005272097.3:c.205G>T, XM_005272097.2:c.205G>T, XM_005272097.1:c.205G>T, XM_005272095.2:c.259G>T, XM_005272095.1:c.259G>T, NM_001300741.2:c.205G>T, NM_001300741.1:c.205G>T, NP_113626.1:p.Val87Leu, XP_005272154.1:p.Val69Leu, XP_005272152.1:p.Val87Leu, NP_001287670.1:p.Val69Leu

Select item 14885130022.

rs1488513002 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:103559142 (GRCh38)
5:102894843 (GRCh37)
Canonical SPDI:: NC_000005.10:103559141:T:C
Gene:: NUDT12 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.103559142T>C, NC_000005.9:g.102894843T>C, NM_031438.4:c.533A>G, NM_031438.3:c.533A>G, NM_031438.2:c.533A>G, XM_005272097.4:c.479A>G, XM_005272097.3:c.479A>G, XM_005272097.2:c.479A>G, XM_005272097.1:c.479A>G, XM_005272095.2:c.533A>G, XM_005272095.1:c.533A>G, NM_001300741.2:c.479A>G, NM_001300741.1:c.479A>G, NP_113626.1:p.Gln178Arg, XP_005272154.1:p.Gln160Arg, XP_005272152.1:p.Gln178Arg, NP_001287670.1:p.Gln160Arg

Select item 14874847843.

rs1487484784 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 5:103552392 (GRCh38)
5:102888094 (GRCh37)
Canonical SPDI:: NC_000005.10:103552392:T:TT
Gene:: NUDT12 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.103552393dup, NC_000005.9:g.102888094dup, NM_031438.4:c.1102dup, NM_031438.3:c.1102dup, NM_031438.2:c.1102dup, XM_005272097.4:c.1048dup, XM_005272097.3:c.1048dup, XM_005272097.2:c.1048dup, XM_005272097.1:c.1048dup, XM_005272095.2:c.1102dup, XM_005272095.1:c.1102dup, NM_001300741.2:c.1048dup, NM_001300741.1:c.1048dup, NP_113626.1:p.Arg368fs, XP_005272154.1:p.Arg350fs, XP_005272152.1:p.Arg368fs, NP_001287670.1:p.Arg350fs

Select item 14854312004.

rs1485431200 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 5:103552309 (GRCh38)
5:102888010 (GRCh37)
Canonical SPDI:: NC_000005.10:103552308:A:C
Gene:: NUDT12 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.103552309A>C, NC_000005.9:g.102888010A>C, NM_031438.4:c.1186T>G, NM_031438.3:c.1186T>G, NM_031438.2:c.1186T>G, XM_005272097.4:c.1132T>G, XM_005272097.3:c.1132T>G, XM_005272097.2:c.1132T>G, XM_005272097.1:c.1132T>G, XM_005272095.2:c.1186T>G, XM_005272095.1:c.1186T>G, NM_001300741.2:c.1132T>G, NM_001300741.1:c.1132T>G, NP_113626.1:p.Leu396Val, XP_005272154.1:p.Leu378Val, XP_005272152.1:p.Leu396Val, NP_001287670.1:p.Leu378Val

Select item 14853802095.

rs1485380209 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:103550890 (GRCh38)
5:102886591 (GRCh37)
Canonical SPDI:: NC_000005.10:103550889:G:A
Gene:: NUDT12 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.103550890G>A, NC_000005.9:g.102886591G>A, NM_031438.4:c.1360C>T, NM_031438.3:c.1360C>T, NM_031438.2:c.1360C>T, XM_005272097.4:c.1306C>T, XM_005272097.3:c.1306C>T, XM_005272097.2:c.1306C>T, XM_005272097.1:c.1306C>T, XM_005272095.2:c.1360C>T, XM_005272095.1:c.1360C>T, NM_001300741.2:c.1306C>T, NM_001300741.1:c.1306C>T, NP_113626.1:p.His454Tyr, XP_005272154.1:p.His436Tyr, XP_005272152.1:p.His454Tyr, NP_001287670.1:p.His436Tyr

Select item 14841381956.

rs1484138195 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:103559462 (GRCh38)
5:102895163 (GRCh37)
Canonical SPDI:: NC_000005.10:103559461:G:A
Gene:: NUDT12 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000005.10:g.103559462G>A, NC_000005.9:g.102895163G>A, NM_031438.4:c.213C>T, NM_031438.3:c.213C>T, NM_031438.2:c.213C>T, XM_005272097.4:c.159C>T, XM_005272097.3:c.159C>T, XM_005272097.2:c.159C>T, XM_005272097.1:c.159C>T, XM_005272095.2:c.213C>T, XM_005272095.1:c.213C>T, NM_001300741.2:c.159C>T, NM_001300741.1:c.159C>T

Select item 14819534367.

rs1481953436 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:103559355 (GRCh38)
5:102895056 (GRCh37)
Canonical SPDI:: NC_000005.10:103559354:G:C
Gene:: NUDT12 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.103559355G>C, NC_000005.9:g.102895056G>C, NM_031438.4:c.320C>G, NM_031438.3:c.320C>G, NM_031438.2:c.320C>G, XM_005272097.4:c.266C>G, XM_005272097.3:c.266C>G, XM_005272097.2:c.266C>G, XM_005272097.1:c.266C>G, XM_005272095.2:c.320C>G, XM_005272095.1:c.320C>G, NM_001300741.2:c.266C>G, NM_001300741.1:c.266C>G, NP_113626.1:p.Pro107Arg, XP_005272154.1:p.Pro89Arg, XP_005272152.1:p.Pro107Arg, NP_001287670.1:p.Pro89Arg

Select item 14819376868.

rs1481937686 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:103552221 (GRCh38)
5:102887922 (GRCh37)
Canonical SPDI:: NC_000005.10:103552220:T:C
Gene:: NUDT12 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.103552221T>C, NC_000005.9:g.102887922T>C, NM_031438.4:c.1274A>G, NM_031438.3:c.1274A>G, NM_031438.2:c.1274A>G, XM_005272097.4:c.1220A>G, XM_005272097.3:c.1220A>G, XM_005272097.2:c.1220A>G, XM_005272097.1:c.1220A>G, XM_005272095.2:c.1274A>G, XM_005272095.1:c.1274A>G, NM_001300741.2:c.1220A>G, NM_001300741.1:c.1220A>G, NP_113626.1:p.Glu425Gly, XP_005272154.1:p.Glu407Gly, XP_005272152.1:p.Glu425Gly, NP_001287670.1:p.Glu407Gly

Select item 14779925929.

rs1477992592 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:103559238 (GRCh38)
5:102894939 (GRCh37)
Canonical SPDI:: NC_000005.10:103559237:G:A
Gene:: NUDT12 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000029/4 (GnomAD)
A=0.000042/11 (TOPMED)
HGVS:: NC_000005.10:g.103559238G>A, NC_000005.9:g.102894939G>A, NM_031438.4:c.437C>T, NM_031438.3:c.437C>T, NM_031438.2:c.437C>T, XM_005272097.4:c.383C>T, XM_005272097.3:c.383C>T, XM_005272097.2:c.383C>T, XM_005272097.1:c.383C>T, XM_005272095.2:c.437C>T, XM_005272095.1:c.437C>T, NM_001300741.2:c.383C>T, NM_001300741.1:c.383C>T, NP_113626.1:p.Pro146Leu, XP_005272154.1:p.Pro128Leu, XP_005272152.1:p.Pro146Leu, NP_001287670.1:p.Pro128Leu

Select item 147788579310.

rs1477885793 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:103559158 (GRCh38)
5:102894859 (GRCh37)
Canonical SPDI:: NC_000005.10:103559157:C:T
Gene:: NUDT12 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.0002/1 (ALFA)
T=0.0002/1 (Estonian)
HGVS:: NC_000005.10:g.103559158C>T, NC_000005.9:g.102894859C>T, NM_031438.4:c.517G>A, NM_031438.3:c.517G>A, NM_031438.2:c.517G>A, XM_005272097.4:c.463G>A, XM_005272097.3:c.463G>A, XM_005272097.2:c.463G>A, XM_005272097.1:c.463G>A, XM_005272095.2:c.517G>A, XM_005272095.1:c.517G>A, NM_001300741.2:c.463G>A, NM_001300741.1:c.463G>A, NP_113626.1:p.Glu173Lys, XP_005272154.1:p.Glu155Lys, XP_005272152.1:p.Glu173Lys, NP_001287670.1:p.Glu155Lys

Select item 147746914411.

rs1477469144 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 5:103559026 (GRCh38)
5:102894727 (GRCh37)
Canonical SPDI:: NC_000005.10:103559025:G:A,NC_000005.10:103559025:G:C
Gene:: NUDT12 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.103559026G>A, NC_000005.10:g.103559026G>C, NC_000005.9:g.102894727G>A, NC_000005.9:g.102894727G>C, NM_031438.4:c.649C>T, NM_031438.4:c.649C>G, NM_031438.3:c.649C>T, NM_031438.3:c.649C>G, NM_031438.2:c.649C>T, NM_031438.2:c.649C>G, XM_005272097.4:c.595C>T, XM_005272097.4:c.595C>G, XM_005272097.3:c.595C>T, XM_005272097.3:c.595C>G, XM_005272097.2:c.595C>T, XM_005272097.2:c.595C>G, XM_005272097.1:c.595C>T, XM_005272097.1:c.595C>G, XM_005272095.2:c.649C>T, XM_005272095.2:c.649C>G, XM_005272095.1:c.649C>T, XM_005272095.1:c.649C>G, NM_001300741.2:c.595C>T, NM_001300741.2:c.595C>G, NM_001300741.1:c.595C>T, NM_001300741.1:c.595C>G, NP_113626.1:p.Pro217Ser, NP_113626.1:p.Pro217Ala, XP_005272154.1:p.Pro199Ser, XP_005272154.1:p.Pro199Ala, XP_005272152.1:p.Pro217Ser, XP_005272152.1:p.Pro217Ala, NP_001287670.1:p.Pro199Ser, NP_001287670.1:p.Pro199Ala

Select item 147745422112.

rs1477454221 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 5:103559409 (GRCh38)
5:102895110 (GRCh37)
Canonical SPDI:: NC_000005.10:103559408:C:A,NC_000005.10:103559408:C:G
Gene:: NUDT12 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000005.10:g.103559409C>A, NC_000005.10:g.103559409C>G, NC_000005.9:g.102895110C>A, NC_000005.9:g.102895110C>G, NM_031438.4:c.266G>T, NM_031438.4:c.266G>C, NM_031438.3:c.266G>T, NM_031438.3:c.266G>C, NM_031438.2:c.266G>T, NM_031438.2:c.266G>C, XM_005272097.4:c.212G>T, XM_005272097.4:c.212G>C, XM_005272097.3:c.212G>T, XM_005272097.3:c.212G>C, XM_005272097.2:c.212G>T, XM_005272097.2:c.212G>C, XM_005272097.1:c.212G>T, XM_005272097.1:c.212G>C, XM_005272095.2:c.266G>T, XM_005272095.2:c.266G>C, XM_005272095.1:c.266G>T, XM_005272095.1:c.266G>C, NM_001300741.2:c.212G>T, NM_001300741.2:c.212G>C, NM_001300741.1:c.212G>T, NM_001300741.1:c.212G>C, NP_113626.1:p.Trp89Leu, NP_113626.1:p.Trp89Ser, XP_005272154.1:p.Trp71Leu, XP_005272154.1:p.Trp71Ser, XP_005272152.1:p.Trp89Leu, XP_005272152.1:p.Trp89Ser, NP_001287670.1:p.Trp71Leu, NP_001287670.1:p.Trp71Ser

Select item 147738604413.

rs1477386044 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:103559336 (GRCh38)
5:102895037 (GRCh37)
Canonical SPDI:: NC_000005.10:103559335:T:C
Gene:: NUDT12 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.103559336T>C, NC_000005.9:g.102895037T>C, NM_031438.4:c.339A>G, NM_031438.3:c.339A>G, NM_031438.2:c.339A>G, XM_005272097.4:c.285A>G, XM_005272097.3:c.285A>G, XM_005272097.2:c.285A>G, XM_005272097.1:c.285A>G, XM_005272095.2:c.339A>G, XM_005272095.1:c.339A>G, NM_001300741.2:c.285A>G, NM_001300741.1:c.285A>G

Select item 147576287314.

rs1475762873 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 5:103552320 (GRCh38)
5:102888021 (GRCh37)
Canonical SPDI:: NC_000005.10:103552319:A:T
Gene:: NUDT12 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.103552320A>T, NC_000005.9:g.102888021A>T, NM_031438.4:c.1175T>A, NM_031438.3:c.1175T>A, NM_031438.2:c.1175T>A, XM_005272097.4:c.1121T>A, XM_005272097.3:c.1121T>A, XM_005272097.2:c.1121T>A, XM_005272097.1:c.1121T>A, XM_005272095.2:c.1175T>A, XM_005272095.1:c.1175T>A, NM_001300741.2:c.1121T>A, NM_001300741.1:c.1121T>A, NP_113626.1:p.Met392Lys, XP_005272154.1:p.Met374Lys, XP_005272152.1:p.Met392Lys, NP_001287670.1:p.Met374Lys

Select item 147503746615.

rs1475037466 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:103552225 (GRCh38)
5:102887926 (GRCh37)
Canonical SPDI:: NC_000005.10:103552224:T:C
Gene:: NUDT12 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.103552225T>C, NC_000005.9:g.102887926T>C, NM_031438.4:c.1270A>G, NM_031438.3:c.1270A>G, NM_031438.2:c.1270A>G, XM_005272097.4:c.1216A>G, XM_005272097.3:c.1216A>G, XM_005272097.2:c.1216A>G, XM_005272097.1:c.1216A>G, XM_005272095.2:c.1270A>G, XM_005272095.1:c.1270A>G, NM_001300741.2:c.1216A>G, NM_001300741.1:c.1216A>G, NP_113626.1:p.Arg424Gly, XP_005272154.1:p.Arg406Gly, XP_005272152.1:p.Arg424Gly, NP_001287670.1:p.Arg406Gly

Select item 146538835116.

rs1465388351 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 5:103559013 (GRCh38)
5:102894714 (GRCh37)
Canonical SPDI:: NC_000005.10:103559012:T:G
Gene:: NUDT12 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000005.10:g.103559013T>G, NC_000005.9:g.102894714T>G, NM_031438.4:c.662A>C, NM_031438.3:c.662A>C, NM_031438.2:c.662A>C, XM_005272097.4:c.608A>C, XM_005272097.3:c.608A>C, XM_005272097.2:c.608A>C, XM_005272097.1:c.608A>C, XM_005272095.2:c.662A>C, XM_005272095.1:c.662A>C, NM_001300741.2:c.608A>C, NM_001300741.1:c.608A>C, NP_113626.1:p.Glu221Ala, XP_005272154.1:p.Glu203Ala, XP_005272152.1:p.Glu221Ala, NP_001287670.1:p.Glu203Ala

Select item 146483117617.

rs1464831176 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:103552405 (GRCh38)
5:102888106 (GRCh37)
Canonical SPDI:: NC_000005.10:103552404:C:T
Gene:: NUDT12 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000008/2 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.103552405C>T, NC_000005.9:g.102888106C>T, NM_031438.4:c.1090G>A, NM_031438.3:c.1090G>A, NM_031438.2:c.1090G>A, XM_005272097.4:c.1036G>A, XM_005272097.3:c.1036G>A, XM_005272097.2:c.1036G>A, XM_005272097.1:c.1036G>A, XM_005272095.2:c.1090G>A, XM_005272095.1:c.1090G>A, NM_001300741.2:c.1036G>A, NM_001300741.1:c.1036G>A, NP_113626.1:p.Glu364Lys, XP_005272154.1:p.Glu346Lys, XP_005272152.1:p.Glu364Lys, NP_001287670.1:p.Glu346Lys

Select item 146402290418.

rs1464022904 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 5:103555983 (GRCh38)
5:102891684 (GRCh37)
Canonical SPDI:: NC_000005.10:103555982:T:G
Gene:: NUDT12 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.103555983T>G, NC_000005.9:g.102891684T>G, NM_031438.4:c.912A>C, NM_031438.3:c.912A>C, NM_031438.2:c.912A>C, XM_005272097.4:c.858A>C, XM_005272097.3:c.858A>C, XM_005272097.2:c.858A>C, XM_005272097.1:c.858A>C, XM_005272095.2:c.912A>C, XM_005272095.1:c.912A>C, NM_001300741.2:c.858A>C, NM_001300741.1:c.858A>C, NP_113626.1:p.Lys304Asn, XP_005272154.1:p.Lys286Asn, XP_005272152.1:p.Lys304Asn, NP_001287670.1:p.Lys286Asn

Select item 146312305519.

rs1463123055 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:103555940 (GRCh38)
5:102891641 (GRCh37)
Canonical SPDI:: NC_000005.10:103555939:G:C
Gene:: NUDT12 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.103555940G>C, NC_000005.9:g.102891641G>C, NM_031438.4:c.955C>G, NM_031438.3:c.955C>G, NM_031438.2:c.955C>G, XM_005272097.4:c.901C>G, XM_005272097.3:c.901C>G, XM_005272097.2:c.901C>G, XM_005272097.1:c.901C>G, XM_005272095.2:c.955C>G, XM_005272095.1:c.955C>G, NM_001300741.2:c.901C>G, NM_001300741.1:c.901C>G, NP_113626.1:p.Pro319Ala, XP_005272154.1:p.Pro301Ala, XP_005272152.1:p.Pro319Ala, NP_001287670.1:p.Pro301Ala

Select item 145933995520.

rs1459339955 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 5:103559127 (GRCh38)
5:102894828 (GRCh37)
Canonical SPDI:: NC_000005.10:103559126:T:G
Gene:: NUDT12 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.103559127T>G, NC_000005.9:g.102894828T>G, NM_031438.4:c.548A>C, NM_031438.3:c.548A>C, NM_031438.2:c.548A>C, XM_005272097.4:c.494A>C, XM_005272097.3:c.494A>C, XM_005272097.2:c.494A>C, XM_005272097.1:c.494A>C, XM_005272095.2:c.548A>C, XM_005272095.1:c.548A>C, NM_001300741.2:c.494A>C, NM_001300741.1:c.494A>C, NP_113626.1:p.Asp183Ala, XP_005272154.1:p.Asp165Ala, XP_005272152.1:p.Asp183Ala, NP_001287670.1:p.Asp165Ala

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 483

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity