SNP Links for Protein (Select 52353320) - SNP

Links from Protein

Items: 1 to 20 of 149

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Select item 14817201441.

rs1481720144 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:190025922 (GRCh38)
4:190947077 (GRCh37)
Canonical SPDI:: NC_000004.12:190025921:T:C
Gene:: FRG2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000004.12:g.190025922T>C, NC_000004.11:g.190947077T>C, NT_187650.1:g.363453T>C, NW_003571034.1:g.118852T>C, NW_015495300.1:g.118508T>C, NT_167222.1:g.30891T>C, NW_015495301.1:g.118508T>C, NM_001005217.4:c.476A>G, NM_001005217.3:c.476A>G, NM_001005217.2:c.476A>G, NM_001005217.1:c.476A>G, NM_001286820.2:c.479A>G, NM_001286820.1:c.479A>G, NM_001199232.1:c.476A>G, NP_001005217.1:p.His159Arg, NP_001273749.1:p.His160Arg

Select item 14806854672.

rs1480685467 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:190025606 (GRCh38)
4:190946761 (GRCh37)
Canonical SPDI:: NC_000004.12:190025605:C:T
Gene:: FRG2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.00001/1 (GnomAD)
HGVS:: NC_000004.12:g.190025606C>T, NC_000004.11:g.190946761C>T, NT_187650.1:g.363137C>T, NW_003571034.1:g.118536C>T, NW_015495300.1:g.118192C>T, NT_167222.1:g.30575C>T, NW_015495301.1:g.118192C>T, NM_001005217.4:c.792G>A, NM_001005217.3:c.792G>A, NM_001005217.2:c.792G>A, NM_001005217.1:c.792G>A, NM_001286820.2:c.795G>A, NM_001286820.1:c.795G>A, NM_001199232.1:c.792G>A

Select item 14774602093.

rs1477460209 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 4:190027110 (GRCh38)
4:190948265 (GRCh37)
Canonical SPDI:: NC_000004.12:190027109:T:G
Gene:: FRG2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000008/1 (GnomAD)
HGVS:: NC_000004.12:g.190027110T>G, NC_000004.11:g.190948265T>G, NT_187650.1:g.364641T>G, NW_003571034.1:g.120040T>G, NW_015495300.1:g.119696T>G, NT_167222.1:g.32079T>G, NW_015495301.1:g.119696T>G, NM_001005217.4:c.95A>C, NM_001005217.3:c.95A>C, NM_001005217.2:c.95A>C, NM_001005217.1:c.95A>C, NM_001286820.2:c.95A>C, NM_001286820.1:c.95A>C, NM_001199232.1:c.95A>C, NP_001005217.1:p.Lys32Thr, NP_001273749.1:p.Lys32Thr

Select item 14772804424.

rs1477280442 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:190026036 (GRCh38)
4:190947191 (GRCh37)
Canonical SPDI:: NC_000004.12:190026035:G:A
Gene:: FRG2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000004.12:g.190026036G>A, NC_000004.11:g.190947191G>A, NT_187650.1:g.363567G>A, NW_003571034.1:g.118966G>A, NW_015495300.1:g.118622G>A, NT_167222.1:g.31005G>A, NW_015495301.1:g.118622G>A, NM_001005217.4:c.362C>T, NM_001005217.3:c.362C>T, NM_001005217.2:c.362C>T, NM_001005217.1:c.362C>T, NM_001286820.2:c.365C>T, NM_001286820.1:c.365C>T, NM_001199232.1:c.362C>T, NP_001005217.1:p.Ser121Leu, NP_001273749.1:p.Ser122Leu

Select item 14712066985.

rs1471206698 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:190026012 (GRCh38)
4:190947167 (GRCh37)
Canonical SPDI:: NC_000004.12:190026011:G:A
Gene:: FRG2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000004.12:g.190026012G>A, NC_000004.11:g.190947167G>A, NT_187650.1:g.363543G>A, NW_003571034.1:g.118942G>A, NW_015495300.1:g.118598G>A, NT_167222.1:g.30981G>A, NW_015495301.1:g.118598G>A, NM_001005217.4:c.386C>T, NM_001005217.3:c.386C>T, NM_001005217.2:c.386C>T, NM_001005217.1:c.386C>T, NM_001286820.2:c.389C>T, NM_001286820.1:c.389C>T, NM_001199232.1:c.386C>T, NP_001005217.1:p.Ser129Phe, NP_001273749.1:p.Ser130Phe

Select item 14699220886.

rs1469922088 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 4:190025752 (GRCh38)
4:190946908 (GRCh37)
Canonical SPDI:: NC_000004.12:190025752:CCCCC:CCCCCC
Gene:: FRG2 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: CCCCCC=0./0 (ALFA)
HGVS:: NC_000004.12:g.190025757dup, NC_000004.11:g.190946912dup, NT_187650.1:g.363288dup, NW_003571034.1:g.118687dup, NW_015495300.1:g.118343dup, NT_167222.1:g.30726dup, NW_015495301.1:g.118343dup, NM_001005217.4:c.645dup, NM_001005217.3:c.645dup, NM_001005217.2:c.645dup, NM_001005217.1:c.645dup, NM_001286820.2:c.648dup, NM_001286820.1:c.648dup, NM_001199232.1:c.645dup, NP_001005217.1:p.Pro216fs, NP_001273749.1:p.Pro217fs

Select item 14649745417.

rs1464974541 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:190026399 (GRCh38)
4:190947554 (GRCh37)
Canonical SPDI:: NC_000004.12:190026398:A:C
Gene:: FRG2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000037/5 (GnomAD)
C=0.00004/10 (GnomAD_exomes)
HGVS:: NC_000004.12:g.190026399A>C, NC_000004.11:g.190947554A>C, NT_187650.1:g.363930A>C, NW_003571034.1:g.119329A>C, NW_015495300.1:g.118985A>C, NT_167222.1:g.31368A>C, NW_015495301.1:g.118985A>C, NM_001005217.4:c.316T>G, NM_001005217.3:c.316T>G, NM_001005217.2:c.316T>G, NM_001005217.1:c.316T>G, NM_001286820.2:c.319T>G, NM_001286820.1:c.319T>G, NM_001199232.1:c.316T>G, NP_001005217.1:p.Cys106Gly, NP_001273749.1:p.Cys107Gly

Select item 14610166048.

rs1461016604 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:190025587 (GRCh38)
4:190946742 (GRCh37)
Canonical SPDI:: NC_000004.12:190025586:T:C
Gene:: FRG2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000012/1 (GnomAD)
HGVS:: NC_000004.12:g.190025587T>C, NC_000004.11:g.190946742T>C, NT_187650.1:g.363118T>C, NW_003571034.1:g.118517T>C, NW_015495300.1:g.118173T>C, NT_167222.1:g.30556T>C, NW_015495301.1:g.118173T>C, NM_001005217.4:c.811A>G, NM_001005217.3:c.811A>G, NM_001005217.2:c.811A>G, NM_001005217.1:c.811A>G, NM_001286820.2:c.814A>G, NM_001286820.1:c.814A>G, NM_001199232.1:c.811A>G, NP_001005217.1:p.Ser271Gly, NP_001273749.1:p.Ser272Gly

Select item 14609789319.

rs1460978931 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:190025761 (GRCh38)
4:190946916 (GRCh37)
Canonical SPDI:: NC_000004.12:190025760:G:T
Gene:: FRG2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000004.12:g.190025761G>T, NC_000004.11:g.190946916G>T, NT_187650.1:g.363292G>T, NW_003571034.1:g.118691G>T, NW_015495300.1:g.118347G>T, NT_167222.1:g.30730G>T, NW_015495301.1:g.118347G>T, NM_001005217.4:c.637C>A, NM_001005217.3:c.637C>A, NM_001005217.2:c.637C>A, NM_001005217.1:c.637C>A, NM_001286820.2:c.640C>A, NM_001286820.1:c.640C>A, NM_001199232.1:c.637C>A, NP_001005217.1:p.Leu213Ile, NP_001273749.1:p.Leu214Ile

Select item 145785643010.

rs1457856430 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 4:190027162 (GRCh38)
4:190948317 (GRCh37)
Canonical SPDI:: NC_000004.12:190027161:T:G
Gene:: FRG2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.190027162T>G, NC_000004.11:g.190948317T>G, NT_187650.1:g.364693T>G, NW_003571034.1:g.120092T>G, NW_015495300.1:g.119748T>G, NT_167222.1:g.32131T>G, NW_015495301.1:g.119748T>G, NM_001005217.4:c.43A>C, NM_001005217.3:c.43A>C, NM_001005217.2:c.43A>C, NM_001005217.1:c.43A>C, NM_001286820.2:c.43A>C, NM_001286820.1:c.43A>C, NM_001199232.1:c.43A>C, NP_001005217.1:p.Ile15Leu, NP_001273749.1:p.Ile15Leu

Select item 145513444711.

rs1455134447 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:190025757 (GRCh38)
4:190946912 (GRCh37)
Canonical SPDI:: NC_000004.12:190025756:C:T
Gene:: FRG2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/2 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000004.12:g.190025757C>T, NC_000004.11:g.190946912C>T, NT_187650.1:g.363288C>T, NW_003571034.1:g.118687C>T, NW_015495300.1:g.118343C>T, NT_167222.1:g.30726C>T, NW_015495301.1:g.118343C>T, NM_001005217.4:c.641G>A, NM_001005217.3:c.641G>A, NM_001005217.2:c.641G>A, NM_001005217.1:c.641G>A, NM_001286820.2:c.644G>A, NM_001286820.1:c.644G>A, NM_001199232.1:c.641G>A, NP_001005217.1:p.Arg214Gln, NP_001273749.1:p.Arg215Gln

Select item 145269151912.

rs1452691519 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:190025778 (GRCh38)
4:190946933 (GRCh37)
Canonical SPDI:: NC_000004.12:190025777:A:C
Gene:: FRG2 (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_000004.12:g.190025778A>C, NC_000004.11:g.190946933A>C, NT_187650.1:g.363309A>C, NW_003571034.1:g.118708A>C, NW_015495300.1:g.118364A>C, NT_167222.1:g.30747A>C, NW_015495301.1:g.118364A>C, NM_001005217.4:c.620T>G, NM_001005217.3:c.620T>G, NM_001005217.2:c.620T>G, NM_001005217.1:c.620T>G, NM_001286820.2:c.623T>G, NM_001286820.1:c.623T>G, NM_001199232.1:c.620T>G, NP_001005217.1:p.Leu207Arg, NP_001273749.1:p.Leu208Arg

Select item 144802400013.

rs1448024000 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:190025855 (GRCh38)
4:190947010 (GRCh37)
Canonical SPDI:: NC_000004.12:190025854:A:G
Gene:: FRG2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.0001/14 (GnomAD)
G=0.000249/66 (TOPMED)
HGVS:: NC_000004.12:g.190025855A>G, NC_000004.11:g.190947010A>G, NT_187650.1:g.363386A>G, NW_003571034.1:g.118785A>G, NW_015495300.1:g.118441A>G, NT_167222.1:g.30824A>G, NW_015495301.1:g.118441A>G, NM_001005217.4:c.543T>C, NM_001005217.3:c.543T>C, NM_001005217.2:c.543T>C, NM_001005217.1:c.543T>C, NM_001286820.2:c.546T>C, NM_001286820.1:c.546T>C, NM_001199232.1:c.543T>C

Select item 144769630714.

rs1447696307 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 4:190027044 (GRCh38)
4:190948199 (GRCh37)
Canonical SPDI:: NC_000004.12:190027043:T:C,NC_000004.12:190027043:T:G
Gene:: FRG2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00002/2 (GnomAD)
C=0.00007/2 (TOMMO)
HGVS:: NC_000004.12:g.190027044T>C, NC_000004.12:g.190027044T>G, NC_000004.11:g.190948199T>C, NC_000004.11:g.190948199T>G, NT_187650.1:g.364575T>C, NT_187650.1:g.364575T>G, NW_003571034.1:g.119974T>C, NW_003571034.1:g.119974T>G, NW_015495300.1:g.119630T>C, NW_015495300.1:g.119630T>G, NT_167222.1:g.32013T>C, NT_167222.1:g.32013T>G, NW_015495301.1:g.119630T>C, NW_015495301.1:g.119630T>G, NM_001005217.4:c.161A>G, NM_001005217.4:c.161A>C, NM_001005217.3:c.161A>G, NM_001005217.3:c.161A>C, NM_001005217.2:c.161A>G, NM_001005217.2:c.161A>C, NM_001005217.1:c.161A>G, NM_001005217.1:c.161A>C, NM_001286820.2:c.161A>G, NM_001286820.2:c.161A>C, NM_001286820.1:c.161A>G, NM_001286820.1:c.161A>C, NM_001199232.1:c.161A>G, NM_001199232.1:c.161A>C, NP_001005217.1:p.Lys54Arg, NP_001005217.1:p.Lys54Thr, NP_001273749.1:p.Lys54Arg, NP_001273749.1:p.Lys54Thr

Select item 144551592215.

rs1445515922 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:190025724 (GRCh38)
4:190946879 (GRCh37)
Canonical SPDI:: NC_000004.12:190025723:T:C
Gene:: FRG2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000004.12:g.190025724T>C, NC_000004.11:g.190946879T>C, NT_187650.1:g.363255T>C, NW_003571034.1:g.118654T>C, NW_015495300.1:g.118310T>C, NT_167222.1:g.30693T>C, NW_015495301.1:g.118310T>C, NM_001005217.4:c.674A>G, NM_001005217.3:c.674A>G, NM_001005217.2:c.674A>G, NM_001005217.1:c.674A>G, NM_001286820.2:c.677A>G, NM_001286820.1:c.677A>G, NM_001199232.1:c.674A>G, NP_001005217.1:p.Tyr225Cys, NP_001273749.1:p.Tyr226Cys

Select item 144409567616.

rs1444095676 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:190027178 (GRCh38)
4:190948333 (GRCh37)
Canonical SPDI:: NC_000004.12:190027177:A:G
Gene:: FRG2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000004.12:g.190027178A>G, NC_000004.11:g.190948333A>G, NT_187650.1:g.364709A>G, NW_003571034.1:g.120108A>G, NW_015495300.1:g.119764A>G, NT_167222.1:g.32147A>G, NW_015495301.1:g.119764A>G, NM_001005217.4:c.27T>C, NM_001005217.3:c.27T>C, NM_001005217.2:c.27T>C, NM_001005217.1:c.27T>C, NM_001286820.2:c.27T>C, NM_001286820.1:c.27T>C, NM_001199232.1:c.27T>C

Select item 144406187917.

rs1444061879 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 4:190025852 (GRCh38)
4:190947007 (GRCh37)
Canonical SPDI:: NC_000004.12:190025851:C:G,NC_000004.12:190025851:C:T
Gene:: FRG2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.190025852C>G, NC_000004.12:g.190025852C>T, NC_000004.11:g.190947007C>G, NC_000004.11:g.190947007C>T, NT_187650.1:g.363383C>G, NT_187650.1:g.363383C>T, NW_003571034.1:g.118782C>G, NW_003571034.1:g.118782C>T, NW_015495300.1:g.118438C>G, NW_015495300.1:g.118438C>T, NT_167222.1:g.30821C>G, NT_167222.1:g.30821C>T, NW_015495301.1:g.118438C>G, NW_015495301.1:g.118438C>T, NM_001005217.4:c.546G>C, NM_001005217.4:c.546G>A, NM_001005217.3:c.546G>C, NM_001005217.3:c.546G>A, NM_001005217.2:c.546G>C, NM_001005217.2:c.546G>A, NM_001005217.1:c.546G>C, NM_001005217.1:c.546G>A, NM_001286820.2:c.549G>C, NM_001286820.2:c.549G>A, NM_001286820.1:c.549G>C, NM_001286820.1:c.549G>A, NM_001199232.1:c.546G>C, NM_001199232.1:c.546G>A, NP_001005217.1:p.Met182Ile, NP_001005217.1:p.Met182Ile, NP_001273749.1:p.Met183Ile, NP_001273749.1:p.Met183Ile

Select item 143806834018.

rs1438068340 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 4:190026049 (GRCh38)
4:190947204 (GRCh37)
Canonical SPDI:: NC_000004.12:190026048:C:G
Gene:: FRG2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.190026049C>G, NC_000004.11:g.190947204C>G, NT_187650.1:g.363580C>G, NW_003571034.1:g.118979C>G, NW_015495300.1:g.118635C>G, NT_167222.1:g.31018C>G, NW_015495301.1:g.118635C>G, NM_001005217.4:c.349G>C, NM_001005217.3:c.349G>C, NM_001005217.2:c.349G>C, NM_001005217.1:c.349G>C, NM_001286820.2:c.352G>C, NM_001286820.1:c.352G>C, NM_001199232.1:c.349G>C, NP_001005217.1:p.Glu117Gln, NP_001273749.1:p.Glu118Gln

Select item 143557142719.

rs1435571427 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:190025972 (GRCh38)
4:190947127 (GRCh37)
Canonical SPDI:: NC_000004.12:190025971:A:C
Gene:: FRG2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000084/1 (ALFA)
A=0./0 (SGDP_PRJ)
C=0.000128/18 (GnomAD)
C=0.000132/35 (TOPMED)
C=0.000156/1 (1000Genomes)
HGVS:: NC_000004.12:g.190025972A>C, NC_000004.11:g.190947127A>C, NT_187650.1:g.363503A>C, NW_003571034.1:g.118902A>C, NW_015495300.1:g.118558A>C, NT_167222.1:g.30941A>C, NW_015495301.1:g.118558A>C, NM_001005217.4:c.426T>G, NM_001005217.3:c.426T>G, NM_001005217.2:c.426T>G, NM_001005217.1:c.426T>G, NM_001286820.2:c.429T>G, NM_001286820.1:c.429T>G, NM_001199232.1:c.426T>G, NP_001005217.1:p.Asp142Glu, NP_001273749.1:p.Asp143Glu

Select item 143063183820.

rs1430631838 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:190026013 (GRCh38)
4:190947168 (GRCh37)
Canonical SPDI:: NC_000004.12:190026012:A:C
Gene:: FRG2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000004.12:g.190026013A>C, NC_000004.11:g.190947168A>C, NT_187650.1:g.363544A>C, NW_003571034.1:g.118943A>C, NW_015495300.1:g.118599A>C, NT_167222.1:g.30982A>C, NW_015495301.1:g.118599A>C, NM_001005217.4:c.385T>G, NM_001005217.3:c.385T>G, NM_001005217.2:c.385T>G, NM_001005217.1:c.385T>G, NM_001286820.2:c.388T>G, NM_001286820.1:c.388T>G, NM_001199232.1:c.385T>G, NP_001005217.1:p.Ser129Ala, NP_001273749.1:p.Ser130Ala

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