Canonical Allele Identifier: CA008101
Gene:

Identifiers and link-outs to other resources

ClinVar Variation Id: 64836
dbSNP Id: rs118203438

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.132921362C>A , CM000671.2:g.132921362C>A GRCh38
NC_000009.10:g.134786570C>A NCBI36
NC_000009.11:g.135796749C>A , CM000671.1:g.135796749C>A GRCh37
NG_012386.1:g.28272G>T , LRG_486:g.28272G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000298552.7:c.737+1G>T ENSP00000298552.3:p.=
ENST00000403810.5:c.737+1G>T ENSP00000386093.1:p.=
ENST00000440111.6:c.737+1G>T ENSP00000394524.2:p.=
ENST00000493467.5:n.933+1G>T
ENST00000545250.5:c.584+1G>T ENSP00000444017.1:p.=
NM_000368.4:c.737+1G>T , LRG_486t1:c.737+1G>T NP_000359.1:p.=
NM_001162426.1:c.737+1G>T NP_001155898.1:p.=
NM_001162427.1:c.584+1G>T NP_001155899.1:p.=
XM_005272211.1:c.737+1G>T XP_005272268.1:p.=
XM_006717271.1:c.737+1G>T XP_006717334.1:p.=
XM_006717272.2:c.737+1G>T XP_006717335.1:p.=
XM_011518979.1:c.737+1G>T XP_011517281.1:p.=