Canonical Allele Identifier: CA8070126
Gene:

Identifiers and link-outs to other resources

ClinVar Variation Id: 255890
ClinVar RCV Id: RCV000242696
dbSNP Id: rs2289116

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56904378G>A , CM000678.2:g.56904378G>A GRCh38
NC_000016.9:g.56938290G>A , CM000678.1:g.56938290G>A GRCh37
NC_000016.8:g.55495791G>A NCBI36
NG_009386.1:g.44172G>A

Transcript Alleles

HGVS Amino-acid change
NM_000339.2:c.2884-17G>A VV NP_000330.2:p.=
NM_001126107.1:c.2881-17G>A VV NP_001119579.1:p.=
NM_001126108.1:c.2857-17G>A VV NP_001119580.1:p.=
XM_005256119.1:c.2854-17G>A XP_005256176.1:p.=
XM_005256119.2:c.2854-17G>A XP_005256176.1:p.=
ENST00000262502.5:c.2854-17G>A ENSP00000262502.5:p.=
ENST00000438926.6:c.2884-17G>A ENSP00000402152.2:p.=
ENST00000563236.5:c.2857-17G>A ENSP00000456149.1:p.=
ENST00000566786.5:c.2881-17G>A ENSP00000457552.1:p.=
ENST00000569002.1:n.288-17G>A