SNP Links for Protein (Select 194328712) - SNP

Links from Protein

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Select item 14846450751.

rs1484645075 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:42755223 (GRCh38)
19:43259375 (GRCh37)
Canonical SPDI:: NC_000019.10:42755222:G:C
Gene:: PSG8 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.42755223G>C, NC_000019.9:g.43259375G>C, NM_182707.3:c.753C>G, NM_182707.2:c.753C>G, NM_001130167.2:c.753C>G, NM_001130167.1:c.753C>G, NM_001130168.2:c.387C>G, NM_001130168.1:c.387C>G, XM_047438848.1:c.414C>G, XM_047438849.1:c.270C>G

Select item 14844064852.

rs1484406485 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:42755121 (GRCh38)
19:43259273 (GRCh37)
Canonical SPDI:: NC_000019.10:42755120:C:T
Gene:: PSG8 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000043/1 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.42755121C>T, NC_000019.9:g.43259273C>T, NM_182707.3:c.855G>A, NM_182707.2:c.855G>A, NM_001130167.2:c.855G>A, NM_001130167.1:c.855G>A, NM_001130168.2:c.489G>A, NM_001130168.1:c.489G>A, XM_047438848.1:c.516G>A, XM_047438849.1:c.372G>A

Select item 14830610493.

rs1483061049 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:42758181 (GRCh38)
19:43262333 (GRCh37)
Canonical SPDI:: NC_000019.10:42758180:C:T
Gene:: PSG8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.001119/5 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000021/3 (GnomAD)
HGVS:: NC_000019.10:g.42758181C>T, NC_000019.9:g.43262333C>T, NM_182707.3:c.530G>A, NM_182707.2:c.530G>A, NM_001130167.2:c.530G>A, NM_001130167.1:c.530G>A, XM_011526986.2:c.530G>A, XM_011526986.1:c.530G>A, NM_001130168.2:c.164G>A, NM_001130168.1:c.164G>A, XM_047438848.1:c.191G>A, XM_047438849.1:c.47G>A, XM_047438850.1:c.164G>A, NP_874366.1:p.Ser177Asn, NP_001123639.1:p.Ser177Asn, XP_011525288.1:p.Ser177Asn, NP_001123640.1:p.Ser55Asn, XP_047294804.1:p.Ser64Asn, XP_047294805.1:p.Ser16Asn, XP_047294806.1:p.Ser55Asn

Select item 14797900394.

rs1479790039 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:42754333 (GRCh38)
19:43258485 (GRCh37)
Canonical SPDI:: NC_000019.10:42754332:C:T
Gene:: PSG8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.42754333C>T, NC_000019.9:g.43258485C>T, NM_182707.3:c.1243G>A, NM_182707.2:c.1243G>A, NM_001130167.2:c.1243G>A, NM_001130167.1:c.1243G>A, XM_011526986.2:c.964G>A, XM_011526986.1:c.964G>A, NM_001130168.2:c.877G>A, NM_001130168.1:c.877G>A, XM_047438848.1:c.904G>A, XM_047438849.1:c.760G>A, XM_047438850.1:c.598G>A, NP_874366.1:p.Gly415Ser, NP_001123639.1:p.Asp415Asn, XP_011525288.1:p.Asp322Asn, NP_001123640.1:p.Asp293Asn, XP_047294804.1:p.Asp302Asn, XP_047294805.1:p.Asp254Asn, XP_047294806.1:p.Asp200Asn

Select item 14789107035.

rs1478910703 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:42758149 (GRCh38)
19:43262301 (GRCh37)
Canonical SPDI:: NC_000019.10:42758148:G:A
Gene:: PSG8 (Varview)
Functional Consequence:: 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_000019.10:g.42758149G>A, NC_000019.9:g.43262301G>A, NM_182707.3:c.562C>T, NM_182707.2:c.562C>T, NM_001130167.2:c.562C>T, NM_001130167.1:c.562C>T, XM_011526986.2:c.562C>T, XM_011526986.1:c.562C>T, NM_001130168.2:c.196C>T, NM_001130168.1:c.196C>T, XM_047438848.1:c.223C>T, XM_047438849.1:c.79C>T, XM_047438850.1:c.196C>T, NP_874366.1:p.Pro188Ser, NP_001123639.1:p.Pro188Ser, XP_011525288.1:p.Pro188Ser, NP_001123640.1:p.Pro66Ser, XP_047294804.1:p.Pro75Ser, XP_047294805.1:p.Pro27Ser, XP_047294806.1:p.Pro66Ser

Select item 14703923206.

rs1470392320 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:42765543 (GRCh38)
19:43269695 (GRCh37)
Canonical SPDI:: NC_000019.10:42765542:G:T
Gene:: PSG8 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,synonymous_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.42765543G>T, NC_000019.9:g.43269695G>T, NM_182707.3:c.39C>A, NM_182707.2:c.39C>A, NM_001130167.2:c.39C>A, NM_001130167.1:c.39C>A, XM_011526986.2:c.39C>A, XM_011526986.1:c.39C>A, NM_001130168.2:c.39C>A, NM_001130168.1:c.39C>A, XM_047438848.1:c.-261C>A, XM_047438850.1:c.39C>A

Select item 14694978877.

rs1469497887 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 19:42754540 (GRCh38)
19:43258692 (GRCh37)
Canonical SPDI:: NC_000019.10:42754539:A:T
Gene:: PSG8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.42754540A>T, NC_000019.9:g.43258692A>T, NM_182707.3:c.1036T>A, NM_182707.2:c.1036T>A, NM_001130167.2:c.1036T>A, NM_001130167.1:c.1036T>A, XM_011526986.2:c.757T>A, XM_011526986.1:c.757T>A, NM_001130168.2:c.670T>A, NM_001130168.1:c.670T>A, XM_047438848.1:c.697T>A, XM_047438849.1:c.553T>A, XM_047438850.1:c.391T>A, NP_874366.1:p.Ser346Thr, NP_001123639.1:p.Ser346Thr, XP_011525288.1:p.Ser253Thr, NP_001123640.1:p.Ser224Thr, XP_047294804.1:p.Ser233Thr, XP_047294805.1:p.Ser185Thr, XP_047294806.1:p.Ser131Thr

Select item 14663303898.

rs1466330389 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:42755145 (GRCh38)
19:43259297 (GRCh37)
Canonical SPDI:: NC_000019.10:42755144:A:G
Gene:: PSG8 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_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_000019.10:g.42755145A>G, NC_000019.9:g.43259297A>G, NM_182707.3:c.831T>C, NM_182707.2:c.831T>C, NM_001130167.2:c.831T>C, NM_001130167.1:c.831T>C, NM_001130168.2:c.465T>C, NM_001130168.1:c.465T>C, XM_047438848.1:c.492T>C, XM_047438849.1:c.348T>C

Select item 14612177609.

rs1461217760 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:42765562 (GRCh38)
19:43269714 (GRCh37)
Canonical SPDI:: NC_000019.10:42765561:G:A
Gene:: PSG8 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000019.10:g.42765562G>A, NC_000019.9:g.43269714G>A, NM_182707.3:c.20C>T, NM_182707.2:c.20C>T, NM_001130167.2:c.20C>T, NM_001130167.1:c.20C>T, XM_011526986.2:c.20C>T, XM_011526986.1:c.20C>T, NM_001130168.2:c.20C>T, NM_001130168.1:c.20C>T, XM_047438848.1:c.-280C>T, XM_047438850.1:c.20C>T, NP_874366.1:p.Pro7Leu, NP_001123639.1:p.Pro7Leu, XP_011525288.1:p.Pro7Leu, NP_001123640.1:p.Pro7Leu, XP_047294806.1:p.Pro7Leu

Select item 146038776110.

rs1460387761 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:42755055 (GRCh38)
19:43259207 (GRCh37)
Canonical SPDI:: NC_000019.10:42755054:G:A
Gene:: PSG8 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.42755055G>A, NC_000019.9:g.43259207G>A, NM_182707.3:c.921C>T, NM_182707.2:c.921C>T, NM_001130167.2:c.921C>T, NM_001130167.1:c.921C>T, NM_001130168.2:c.555C>T, NM_001130168.1:c.555C>T, XM_047438848.1:c.582C>T, XM_047438849.1:c.438C>T

Select item 145767174811.

rs1457671748 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:42758110 (GRCh38)
19:43262262 (GRCh37)
Canonical SPDI:: NC_000019.10:42758109:T:C
Gene:: PSG8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.42758110T>C, NC_000019.9:g.43262262T>C, NM_182707.3:c.601A>G, NM_182707.2:c.601A>G, NM_001130167.2:c.601A>G, NM_001130167.1:c.601A>G, XM_011526986.2:c.601A>G, XM_011526986.1:c.601A>G, NM_001130168.2:c.235A>G, NM_001130168.1:c.235A>G, XM_047438848.1:c.262A>G, XM_047438849.1:c.118A>G, XM_047438850.1:c.235A>G, NP_874366.1:p.Thr201Ala, NP_001123639.1:p.Thr201Ala, XP_011525288.1:p.Thr201Ala, NP_001123640.1:p.Thr79Ala, XP_047294804.1:p.Thr88Ala, XP_047294805.1:p.Thr40Ala, XP_047294806.1:p.Thr79Ala

Select item 145593019912.

rs1455930199 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:42758026 (GRCh38)
19:43262178 (GRCh37)
Canonical SPDI:: NC_000019.10:42758025:C:T
Gene:: PSG8 (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=0.000312/2 (1000Genomes)
HGVS:: NC_000019.10:g.42758026C>T, NC_000019.9:g.43262178C>T, NM_182707.3:c.685G>A, NM_182707.2:c.685G>A, NM_001130167.2:c.685G>A, NM_001130167.1:c.685G>A, XM_011526986.2:c.685G>A, XM_011526986.1:c.685G>A, NM_001130168.2:c.319G>A, NM_001130168.1:c.319G>A, XM_047438848.1:c.346G>A, XM_047438849.1:c.202G>A, XM_047438850.1:c.319G>A, NP_874366.1:p.Asp229Asn, NP_001123639.1:p.Asp229Asn, XP_011525288.1:p.Asp229Asn, NP_001123640.1:p.Asp107Asn, XP_047294804.1:p.Asp116Asn, XP_047294805.1:p.Asp68Asn, XP_047294806.1:p.Asp107Asn

Select item 145378007813.

rs1453780078 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:42754512 (GRCh38)
19:43258664 (GRCh37)
Canonical SPDI:: NC_000019.10:42754511:G:A
Gene:: PSG8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000156/1 (1000Genomes)
A=0.000177/3 (TOMMO)
HGVS:: NC_000019.10:g.42754512G>A, NC_000019.9:g.43258664G>A, NM_182707.3:c.1064C>T, NM_182707.2:c.1064C>T, NM_001130167.2:c.1064C>T, NM_001130167.1:c.1064C>T, XM_011526986.2:c.785C>T, XM_011526986.1:c.785C>T, NM_001130168.2:c.698C>T, NM_001130168.1:c.698C>T, XM_047438848.1:c.725C>T, XM_047438849.1:c.581C>T, XM_047438850.1:c.419C>T, NP_874366.1:p.Ser355Phe, NP_001123639.1:p.Ser355Phe, XP_011525288.1:p.Ser262Phe, NP_001123640.1:p.Ser233Phe, XP_047294804.1:p.Ser242Phe, XP_047294805.1:p.Ser194Phe, XP_047294806.1:p.Ser140Phe

Select item 145179417814.

rs1451794178 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:42755238 (GRCh38)
19:43259390 (GRCh37)
Canonical SPDI:: NC_000019.10:42755237:G:A,NC_000019.10:42755237:G:C
Gene:: PSG8 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
A=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000019.10:g.42755238G>A, NC_000019.10:g.42755238G>C, NC_000019.9:g.43259390G>A, NC_000019.9:g.43259390G>C, NM_182707.3:c.738C>T, NM_182707.3:c.738C>G, NM_182707.2:c.738C>T, NM_182707.2:c.738C>G, NM_001130167.2:c.738C>T, NM_001130167.2:c.738C>G, NM_001130167.1:c.738C>T, NM_001130167.1:c.738C>G, NM_001130168.2:c.372C>T, NM_001130168.2:c.372C>G, NM_001130168.1:c.372C>T, NM_001130168.1:c.372C>G, XM_047438848.1:c.399C>T, XM_047438848.1:c.399C>G, XM_047438849.1:c.255C>T, XM_047438849.1:c.255C>G, NP_874366.1:p.Ile246Met, NP_001123639.1:p.Ile246Met, NP_001123640.1:p.Ile124Met, XP_047294804.1:p.Ile133Met, XP_047294805.1:p.Ile85Met

Select item 145167066415.

rs1451670664 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:42758115 (GRCh38)
19:43262267 (GRCh37)
Canonical SPDI:: NC_000019.10:42758114:T:C
Gene:: PSG8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.42758115T>C, NC_000019.9:g.43262267T>C, NM_182707.3:c.596A>G, NM_182707.2:c.596A>G, NM_001130167.2:c.596A>G, NM_001130167.1:c.596A>G, XM_011526986.2:c.596A>G, XM_011526986.1:c.596A>G, NM_001130168.2:c.230A>G, NM_001130168.1:c.230A>G, XM_047438848.1:c.257A>G, XM_047438849.1:c.113A>G, XM_047438850.1:c.230A>G, NP_874366.1:p.Asn199Ser, NP_001123639.1:p.Asn199Ser, XP_011525288.1:p.Asn199Ser, NP_001123640.1:p.Asn77Ser, XP_047294804.1:p.Asn86Ser, XP_047294805.1:p.Asn38Ser, XP_047294806.1:p.Asn77Ser

Select item 145159655716.

rs1451596557 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:42755036 (GRCh38)
19:43259188 (GRCh37)
Canonical SPDI:: NC_000019.10:42755035:C:A,NC_000019.10:42755035:C:T
Gene:: PSG8 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
A=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000019.10:g.42755036C>A, NC_000019.10:g.42755036C>T, NC_000019.9:g.43259188C>A, NC_000019.9:g.43259188C>T, NM_182707.3:c.940G>T, NM_182707.3:c.940G>A, NM_182707.2:c.940G>T, NM_182707.2:c.940G>A, NM_001130167.2:c.940G>T, NM_001130167.2:c.940G>A, NM_001130167.1:c.940G>T, NM_001130167.1:c.940G>A, NM_001130168.2:c.574G>T, NM_001130168.2:c.574G>A, NM_001130168.1:c.574G>T, NM_001130168.1:c.574G>A, XM_047438848.1:c.601G>T, XM_047438848.1:c.601G>A, XM_047438849.1:c.457G>T, XM_047438849.1:c.457G>A, NP_874366.1:p.Asp314Tyr, NP_874366.1:p.Asp314Asn, NP_001123639.1:p.Asp314Tyr, NP_001123639.1:p.Asp314Asn, NP_001123640.1:p.Asp192Tyr, NP_001123640.1:p.Asp192Asn, XP_047294804.1:p.Asp201Tyr, XP_047294804.1:p.Asp201Asn, XP_047294805.1:p.Asp153Tyr, XP_047294805.1:p.Asp153Asn

Select item 145102197917.

rs1451021979 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:42755229 (GRCh38)
19:43259381 (GRCh37)
Canonical SPDI:: NC_000019.10:42755228:T:C
Gene:: PSG8 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.42755229T>C, NC_000019.9:g.43259381T>C, NM_182707.3:c.747A>G, NM_182707.2:c.747A>G, NM_001130167.2:c.747A>G, NM_001130167.1:c.747A>G, NM_001130168.2:c.381A>G, NM_001130168.1:c.381A>G, XM_047438848.1:c.408A>G, XM_047438849.1:c.264A>G

Select item 144969172818.

rs1449691728 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:42758236 (GRCh38)
19:43262388 (GRCh37)
Canonical SPDI:: NC_000019.10:42758235:T:C
Gene:: PSG8 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.42758236T>C, NC_000019.9:g.43262388T>C, NM_182707.3:c.475A>G, NM_182707.2:c.475A>G, NM_001130167.2:c.475A>G, NM_001130167.1:c.475A>G, XM_011526986.2:c.475A>G, XM_011526986.1:c.475A>G, NM_001130168.2:c.109A>G, NM_001130168.1:c.109A>G, XM_047438848.1:c.136A>G, XM_047438849.1:c.-9A>G, XM_047438850.1:c.109A>G, NP_874366.1:p.Arg159Gly, NP_001123639.1:p.Arg159Gly, XP_011525288.1:p.Arg159Gly, NP_001123640.1:p.Arg37Gly, XP_047294804.1:p.Arg46Gly, XP_047294806.1:p.Arg37Gly

Select item 144917423719.

rs1449174237 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:42758037 (GRCh38)
19:43262189 (GRCh37)
Canonical SPDI:: NC_000019.10:42758036:G:A
Gene:: PSG8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.42758037G>A, NC_000019.9:g.43262189G>A, NM_182707.3:c.674C>T, NM_182707.2:c.674C>T, NM_001130167.2:c.674C>T, NM_001130167.1:c.674C>T, XM_011526986.2:c.674C>T, XM_011526986.1:c.674C>T, NM_001130168.2:c.308C>T, NM_001130168.1:c.308C>T, XM_047438848.1:c.335C>T, XM_047438849.1:c.191C>T, XM_047438850.1:c.308C>T, NP_874366.1:p.Ala225Val, NP_001123639.1:p.Ala225Val, XP_011525288.1:p.Ala225Val, NP_001123640.1:p.Ala103Val, XP_047294804.1:p.Ala112Val, XP_047294805.1:p.Ala64Val, XP_047294806.1:p.Ala103Val

Select item 144654166920.

rs1446541669 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:42755015 (GRCh38)
19:43259167 (GRCh37)
Canonical SPDI:: NC_000019.10:42755014:T:C
Gene:: PSG8 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.42755015T>C, NC_000019.9:g.43259167T>C, NM_182707.3:c.961A>G, NM_182707.2:c.961A>G, NM_001130167.2:c.961A>G, NM_001130167.1:c.961A>G, NM_001130168.2:c.595A>G, NM_001130168.1:c.595A>G, XM_047438848.1:c.622A>G, XM_047438849.1:c.478A>G, NP_874366.1:p.Ser321Gly, NP_001123639.1:p.Ser321Gly, NP_001123640.1:p.Ser199Gly, XP_047294804.1:p.Ser208Gly, XP_047294805.1:p.Ser160Gly

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