SNP Links for Protein (Select 4501895) - SNP

Links from Protein

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Select item 14857180761.

rs1485718076 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:157738504 (GRCh38)
2:158595016 (GRCh37)
Canonical SPDI:: NC_000002.12:157738503:A:G
Gene:: ACVR1 (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)
G=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.157738504A>G, NC_000002.11:g.158595016A>G, NG_008004.1:g.141608T>C, NM_001105.5:c.1331T>C, NM_001105.4:c.1331T>C, NM_001111067.4:c.1331T>C, NM_001111067.3:c.1331T>C, NM_001111067.2:c.1331T>C, NM_001347667.2:c.1331T>C, NM_001347667.1:c.1331T>C, NM_001347666.1:c.1331T>C, NM_001347664.1:c.1331T>C, NM_001347665.1:c.1331T>C, NM_001347663.1:c.1331T>C, NP_001096.1:p.Met444Thr, NP_001104537.1:p.Met444Thr, NP_001334596.1:p.Met444Thr, NP_001334595.1:p.Met444Thr, NP_001334593.1:p.Met444Thr, NP_001334594.1:p.Met444Thr, NP_001334592.1:p.Met444Thr

Select item 14825976382.

rs1482597638 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:157766059 (GRCh38)
2:158622571 (GRCh37)
Canonical SPDI:: NC_000002.12:157766058:G:A
Gene:: ACVR1 (Varview)
Functional Consequence:: synonymous_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_000002.12:g.157766059G>A, NC_000002.11:g.158622571G>A, NG_008004.1:g.114053C>T, NM_001105.5:c.928C>T, NM_001105.4:c.928C>T, NM_001111067.4:c.928C>T, NM_001111067.3:c.928C>T, NM_001111067.2:c.928C>T, NM_001347667.2:c.928C>T, NM_001347667.1:c.928C>T, NM_001347666.1:c.928C>T, NM_001347664.1:c.928C>T, NM_001347665.1:c.928C>T, NM_001347663.1:c.928C>T

Select item 14776889143.

rs1477688914 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:157738554 (GRCh38)
2:158595066 (GRCh37)
Canonical SPDI:: NC_000002.12:157738553:G:A
Gene:: ACVR1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.157738554G>A, NC_000002.11:g.158595066G>A, NG_008004.1:g.141558C>T, NM_001105.5:c.1281C>T, NM_001105.4:c.1281C>T, NM_001111067.4:c.1281C>T, NM_001111067.3:c.1281C>T, NM_001111067.2:c.1281C>T, NM_001347667.2:c.1281C>T, NM_001347667.1:c.1281C>T, NM_001347666.1:c.1281C>T, NM_001347664.1:c.1281C>T, NM_001347665.1:c.1281C>T, NM_001347663.1:c.1281C>T

Select item 14775274754.

rs1477527475 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:157778188 (GRCh38)
2:158634700 (GRCh37)
Canonical SPDI:: NC_000002.12:157778187:C:T
Gene:: ACVR1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000002.12:g.157778188C>T, NC_000002.11:g.158634700C>T, NG_008004.1:g.101924G>A, NM_001105.5:c.486G>A, NM_001105.4:c.486G>A, NM_001111067.4:c.486G>A, NM_001111067.3:c.486G>A, NM_001111067.2:c.486G>A, NM_001347667.2:c.486G>A, NM_001347667.1:c.486G>A, NM_001347666.1:c.486G>A, NM_001347664.1:c.486G>A, NM_001347665.1:c.486G>A, NM_001347663.1:c.486G>A

Select item 14773015095.

rs1477301509 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:157738483 (GRCh38)
2:158594995 (GRCh37)
Canonical SPDI:: NC_000002.12:157738482:T:A
Gene:: ACVR1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.157738483T>A, NC_000002.11:g.158594995T>A, NG_008004.1:g.141629A>T, NM_001105.5:c.1352A>T, NM_001105.4:c.1352A>T, NM_001111067.4:c.1352A>T, NM_001111067.3:c.1352A>T, NM_001111067.2:c.1352A>T, NM_001347667.2:c.1352A>T, NM_001347667.1:c.1352A>T, NM_001347666.1:c.1352A>T, NM_001347664.1:c.1352A>T, NM_001347665.1:c.1352A>T, NM_001347663.1:c.1352A>T, NP_001096.1:p.Asp451Val, NP_001104537.1:p.Asp451Val, NP_001334596.1:p.Asp451Val, NP_001334595.1:p.Asp451Val, NP_001334593.1:p.Asp451Val, NP_001334594.1:p.Asp451Val, NP_001334592.1:p.Asp451Val

Select item 14731200136.

rs1473120013 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:157799430 (GRCh38)
2:158655942 (GRCh37)
Canonical SPDI:: NC_000002.12:157799429:C:G
Gene:: ACVR1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.157799430C>G, NC_000002.11:g.158655942C>G, NG_008004.1:g.80682G>C, NM_001105.5:c.64G>C, NM_001105.4:c.64G>C, NM_001111067.4:c.64G>C, NM_001111067.3:c.64G>C, NM_001111067.2:c.64G>C, NM_001347667.2:c.64G>C, NM_001347667.1:c.64G>C, NM_001347666.1:c.64G>C, NM_001347664.1:c.64G>C, NM_001347665.1:c.64G>C, NM_001347663.1:c.64G>C, NP_001096.1:p.Glu22Gln, NP_001104537.1:p.Glu22Gln, NP_001334596.1:p.Glu22Gln, NP_001334595.1:p.Glu22Gln, NP_001334593.1:p.Glu22Gln, NP_001334594.1:p.Glu22Gln, NP_001334592.1:p.Glu22Gln

Select item 14713075497.

rs1471307549 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:157765999 (GRCh38)
2:158622511 (GRCh37)
Canonical SPDI:: NC_000002.12:157765998:G:A,NC_000002.12:157765998:G:C
Gene:: ACVR1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.157765999G>A, NC_000002.12:g.157765999G>C, NC_000002.11:g.158622511G>A, NC_000002.11:g.158622511G>C, NG_008004.1:g.114113C>T, NG_008004.1:g.114113C>G, NM_001105.5:c.988C>T, NM_001105.5:c.988C>G, NM_001105.4:c.988C>T, NM_001105.4:c.988C>G, NM_001111067.4:c.988C>T, NM_001111067.4:c.988C>G, NM_001111067.3:c.988C>T, NM_001111067.3:c.988C>G, NM_001111067.2:c.988C>T, NM_001111067.2:c.988C>G, NM_001347667.2:c.988C>T, NM_001347667.2:c.988C>G, NM_001347667.1:c.988C>T, NM_001347667.1:c.988C>G, NM_001347666.1:c.988C>T, NM_001347666.1:c.988C>G, NM_001347664.1:c.988C>T, NM_001347664.1:c.988C>G, NM_001347665.1:c.988C>T, NM_001347665.1:c.988C>G, NM_001347663.1:c.988C>T, NM_001347663.1:c.988C>G, NP_001096.1:p.Pro330Ser, NP_001096.1:p.Pro330Ala, NP_001104537.1:p.Pro330Ser, NP_001104537.1:p.Pro330Ala, NP_001334596.1:p.Pro330Ser, NP_001334596.1:p.Pro330Ala, NP_001334595.1:p.Pro330Ser, NP_001334595.1:p.Pro330Ala, NP_001334593.1:p.Pro330Ser, NP_001334593.1:p.Pro330Ala, NP_001334594.1:p.Pro330Ser, NP_001334594.1:p.Pro330Ala, NP_001334592.1:p.Pro330Ser, NP_001334592.1:p.Pro330Ala

Select item 14711866978.

rs1471186697 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:157760917 (GRCh38)
2:158617429 (GRCh37)
Canonical SPDI:: NC_000002.12:157760916:A:G
Gene:: ACVR1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.157760917A>G, NC_000002.11:g.158617429A>G, NG_008004.1:g.119195T>C, NM_001105.5:c.1227T>C, NM_001105.4:c.1227T>C, NM_001111067.4:c.1227T>C, NM_001111067.3:c.1227T>C, NM_001111067.2:c.1227T>C, NM_001347667.2:c.1227T>C, NM_001347667.1:c.1227T>C, NM_001347666.1:c.1227T>C, NM_001347664.1:c.1227T>C, NM_001347665.1:c.1227T>C, NM_001347663.1:c.1227T>C

Select item 14685268959.

rs1468526895 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:157738470 (GRCh38)
2:158594982 (GRCh37)
Canonical SPDI:: NC_000002.12:157738469:T:C
Gene:: ACVR1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.157738470T>C, NC_000002.11:g.158594982T>C, NG_008004.1:g.141642A>G, NM_001105.5:c.1365A>G, NM_001105.4:c.1365A>G, NM_001111067.4:c.1365A>G, NM_001111067.3:c.1365A>G, NM_001111067.2:c.1365A>G, NM_001347667.2:c.1365A>G, NM_001347667.1:c.1365A>G, NM_001347666.1:c.1365A>G, NM_001347664.1:c.1365A>G, NM_001347665.1:c.1365A>G, NM_001347663.1:c.1365A>G

Select item 146832384810.

rs1468323848 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:157780485 (GRCh38)
2:158636997 (GRCh37)
Canonical SPDI:: NC_000002.12:157780484:A:G
Gene:: ACVR1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.157780485A>G, NC_000002.11:g.158636997A>G, NG_008004.1:g.99627T>C, NM_001105.5:c.183T>C, NM_001105.4:c.183T>C, NM_001111067.4:c.183T>C, NM_001111067.3:c.183T>C, NM_001111067.2:c.183T>C, NM_001347667.2:c.183T>C, NM_001347667.1:c.183T>C, NM_001347666.1:c.183T>C, NM_001347664.1:c.183T>C, NM_001347665.1:c.183T>C, NM_001347663.1:c.183T>C

Select item 146533511111.

rs1465335111 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:157761016 (GRCh38)
2:158617528 (GRCh37)
Canonical SPDI:: NC_000002.12:157761015:C:T
Gene:: ACVR1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.157761016C>T, NC_000002.11:g.158617528C>T, NG_008004.1:g.119096G>A, NM_001105.5:c.1128G>A, NM_001105.4:c.1128G>A, NM_001111067.4:c.1128G>A, NM_001111067.3:c.1128G>A, NM_001111067.2:c.1128G>A, NM_001347667.2:c.1128G>A, NM_001347667.1:c.1128G>A, NM_001347666.1:c.1128G>A, NM_001347664.1:c.1128G>A, NM_001347665.1:c.1128G>A, NM_001347663.1:c.1128G>A

Select item 146519912712.

rs1465199127 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:157770490 (GRCh38)
2:158627002 (GRCh37)
Canonical SPDI:: NC_000002.12:157770489:C:T
Gene:: ACVR1 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
HGVS:: NC_000002.12:g.157770490C>T, NC_000002.11:g.158627002C>T, NG_008004.1:g.109622G>A, NM_001105.5:c.668G>A, NM_001105.4:c.668G>A, NM_001111067.4:c.668G>A, NM_001111067.3:c.668G>A, NM_001111067.2:c.668G>A, NM_001347667.2:c.668G>A, NM_001347667.1:c.668G>A, NM_001347666.1:c.668G>A, NM_001347664.1:c.668G>A, NM_001347665.1:c.668G>A, NM_001347663.1:c.668G>A, NP_001096.1:p.Trp223Ter, NP_001104537.1:p.Trp223Ter, NP_001334596.1:p.Trp223Ter, NP_001334595.1:p.Trp223Ter, NP_001334593.1:p.Trp223Ter, NP_001334594.1:p.Trp223Ter, NP_001334592.1:p.Trp223Ter

Select item 146200307913.

rs1462003079 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATTT [Show Flanks]
Chromosome:: 2:157738501 (GRCh38)
2:158595014 (GRCh37)
Canonical SPDI:: NC_000002.12:157738501:T:TATTT
Gene:: ACVR1 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,inframe_indel
HGVS:: NC_000002.12:g.157738502_157738503insATTT, NC_000002.11:g.158595014_158595015insATTT, NG_008004.1:g.141610_141611insAATA, NM_001105.5:c.1333_1334insAATA, NM_001105.4:c.1333_1334insAATA, NM_001111067.4:c.1333_1334insAATA, NM_001111067.3:c.1333_1334insAATA, NM_001111067.2:c.1333_1334insAATA, NM_001347667.2:c.1333_1334insAATA, NM_001347667.1:c.1333_1334insAATA, NM_001347666.1:c.1333_1334insAATA, NM_001347664.1:c.1333_1334insAATA, NM_001347665.1:c.1333_1334insAATA, NM_001347663.1:c.1333_1334insAATA, NP_001096.1:p.Arg445delinsLysTer, NP_001104537.1:p.Arg445delinsLysTer, NP_001334596.1:p.Arg445delinsLysTer, NP_001334595.1:p.Arg445delinsLysTer, NP_001334593.1:p.Arg445delinsLysTer, NP_001334594.1:p.Arg445delinsLysTer, NP_001334592.1:p.Arg445delinsLysTer

Select item 145350079314.

rs1453500793 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:157761026 (GRCh38)
2:158617538 (GRCh37)
Canonical SPDI:: NC_000002.12:157761025:T:C
Gene:: ACVR1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000002.12:g.157761026T>C, NC_000002.11:g.158617538T>C, NG_008004.1:g.119086A>G, NM_001105.5:c.1118A>G, NM_001105.4:c.1118A>G, NM_001111067.4:c.1118A>G, NM_001111067.3:c.1118A>G, NM_001111067.2:c.1118A>G, NM_001347667.2:c.1118A>G, NM_001347667.1:c.1118A>G, NM_001347666.1:c.1118A>G, NM_001347664.1:c.1118A>G, NM_001347665.1:c.1118A>G, NM_001347663.1:c.1118A>G, NP_001096.1:p.Asn373Ser, NP_001104537.1:p.Asn373Ser, NP_001334596.1:p.Asn373Ser, NP_001334595.1:p.Asn373Ser, NP_001334593.1:p.Asn373Ser, NP_001334594.1:p.Asn373Ser, NP_001334592.1:p.Asn373Ser

Select item 145082592715.

rs1450825927 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:157778277 (GRCh38)
2:158634789 (GRCh37)
Canonical SPDI:: NC_000002.12:157778276:A:G
Gene:: ACVR1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.157778277A>G, NC_000002.11:g.158634789A>G, NG_008004.1:g.101835T>C, NM_001105.5:c.397T>C, NM_001105.4:c.397T>C, NM_001111067.4:c.397T>C, NM_001111067.3:c.397T>C, NM_001111067.2:c.397T>C, NM_001347667.2:c.397T>C, NM_001347667.1:c.397T>C, NM_001347666.1:c.397T>C, NM_001347664.1:c.397T>C, NM_001347665.1:c.397T>C, NM_001347663.1:c.397T>C, NP_001096.1:p.Phe133Leu, NP_001104537.1:p.Phe133Leu, NP_001334596.1:p.Phe133Leu, NP_001334595.1:p.Phe133Leu, NP_001334593.1:p.Phe133Leu, NP_001334594.1:p.Phe133Leu, NP_001334592.1:p.Phe133Leu

Select item 144846074916.

rs1448460749 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:157766003 (GRCh38)
2:158622515 (GRCh37)
Canonical SPDI:: NC_000002.12:157766002:C:T
Gene:: ACVR1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.157766003C>T, NC_000002.11:g.158622515C>T, NG_008004.1:g.114109G>A, NM_001105.5:c.984G>A, NM_001105.4:c.984G>A, NM_001111067.4:c.984G>A, NM_001111067.3:c.984G>A, NM_001111067.2:c.984G>A, NM_001347667.2:c.984G>A, NM_001347667.1:c.984G>A, NM_001347666.1:c.984G>A, NM_001347664.1:c.984G>A, NM_001347665.1:c.984G>A, NM_001347663.1:c.984G>A

Select item 144668857317.

rs1446688573 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:157774181 (GRCh38)
2:158630693 (GRCh37)
Canonical SPDI:: NC_000002.12:157774180:A:G
Gene:: ACVR1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.157774181A>G, NC_000002.11:g.158630693A>G, NG_008004.1:g.105931T>C, NM_001105.5:c.550T>C, NM_001105.4:c.550T>C, NM_001111067.4:c.550T>C, NM_001111067.3:c.550T>C, NM_001111067.2:c.550T>C, NM_001347667.2:c.550T>C, NM_001347667.1:c.550T>C, NM_001347666.1:c.550T>C, NM_001347664.1:c.550T>C, NM_001347665.1:c.550T>C, NM_001347663.1:c.550T>C

Select item 144206237318.

rs1442062373 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:157770492 (GRCh38)
2:158627004 (GRCh37)
Canonical SPDI:: NC_000002.12:157770491:C:T
Gene:: ACVR1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000002.12:g.157770492C>T, NC_000002.11:g.158627004C>T, NG_008004.1:g.109620G>A, NM_001105.5:c.666G>A, NM_001105.4:c.666G>A, NM_001111067.4:c.666G>A, NM_001111067.3:c.666G>A, NM_001111067.2:c.666G>A, NM_001347667.2:c.666G>A, NM_001347667.1:c.666G>A, NM_001347666.1:c.666G>A, NM_001347664.1:c.666G>A, NM_001347665.1:c.666G>A, NM_001347663.1:c.666G>A

Select item 143994168119.

rs1439941681 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:157778221 (GRCh38)
2:158634733 (GRCh37)
Canonical SPDI:: NC_000002.12:157778220:C:T
Gene:: ACVR1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000002.12:g.157778221C>T, NC_000002.11:g.158634733C>T, NG_008004.1:g.101891G>A, NM_001105.5:c.453G>A, NM_001105.4:c.453G>A, NM_001111067.4:c.453G>A, NM_001111067.3:c.453G>A, NM_001111067.2:c.453G>A, NM_001347667.2:c.453G>A, NM_001347667.1:c.453G>A, NM_001347666.1:c.453G>A, NM_001347664.1:c.453G>A, NM_001347665.1:c.453G>A, NM_001347663.1:c.453G>A

Select item 143273790520.

rs1432737905 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:157738509 (GRCh38)
2:158595021 (GRCh37)
Canonical SPDI:: NC_000002.12:157738508:T:C
Gene:: ACVR1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.157738509T>C, NC_000002.11:g.158595021T>C, NG_008004.1:g.141603A>G, NM_001105.5:c.1326A>G, NM_001105.4:c.1326A>G, NM_001111067.4:c.1326A>G, NM_001111067.3:c.1326A>G, NM_001111067.2:c.1326A>G, NM_001347667.2:c.1326A>G, NM_001347667.1:c.1326A>G, NM_001347666.1:c.1326A>G, NM_001347664.1:c.1326A>G, NM_001347665.1:c.1326A>G, NM_001347663.1:c.1326A>G

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