Canonical Allele Identifier: CA008088
Gene:

Identifiers and link-outs to other resources

ClinVar Variation Id: 49091
dbSNP Id: rs118203434

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.132921367G>A , CM000671.2:g.132921367G>A GRCh38
NC_000009.10:g.134786575G>A NCBI36
NC_000009.11:g.135796754G>A , CM000671.1:g.135796754G>A GRCh37
NG_012386.1:g.28267C>T , LRG_486:g.28267C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000298552.7:c.733C>T ENSP00000298552.3:p.Arg245Ter
ENST00000403810.5:c.733C>T ENSP00000386093.1:p.Arg245Ter
ENST00000440111.6:c.733C>T ENSP00000394524.2:p.Arg245Ter
ENST00000493467.5:n.929C>T
ENST00000545250.5:c.580C>T ENSP00000444017.1:p.Arg194Ter
NM_000368.4:c.733C>T , LRG_486t1:c.733C>T NP_000359.1:p.Arg245Ter
NM_001162426.1:c.733C>T VV NP_001155898.1:p.Arg245Ter
NM_001162427.1:c.580C>T VV NP_001155899.1:p.Arg194Ter
XM_005272211.1:c.733C>T XP_005272268.1:p.Arg245Ter
XM_006717271.1:c.733C>T XP_006717334.1:p.Arg245Ter
XM_006717272.2:c.733C>T XP_006717335.1:p.Arg245Ter
XM_011518979.1:c.733C>T XP_011517281.1:p.Arg245Ter
NM_001362177.1:c.370C>T VV NP_001349106.1:p.Arg124Ter
XM_011518979.2:c.733C>T
XM_017015096.1:c.733C>T XP_016870585.1:p.Arg245Ter
XM_017015097.1:c.733C>T XP_016870586.1:p.Arg245Ter
XM_017015098.1:c.733C>T XP_016870587.1:p.Arg245Ter
XM_017015100.1:c.370C>T XP_016870589.1:p.Arg124Ter
XM_017015101.1:c.370C>T XP_016870590.1:p.Arg124Ter