Canonical Allele Identifier: CA124444

Linked Data

ClinVar Variation Id: 14914
ClinVar RCV Id: RCV000016049
dbSNP Id: rs121918122

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.186669945G>A , CM000665.2:g.186669945G>A GRCh38
NC_000003.11:g.186387734G>A , CM000665.1:g.186387734G>A GRCh37
NC_000003.10:g.187870428G>A NCBI36
NG_021485.2:g.14730G>A , LRG_601:g.14730G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000232003.5:c.308G>A (HRG) MANE Select ENSP00000232003.4:p.Gly103Glu
ENST00000232003.4:c.308G>A (HRG) ENSP00000232003.4:p.Gly103Glu
ENST00000495413.1:n.433G>A (HRG)
NM_000412.3:c.308G>A (HRG) NP_000403.1:p.Gly103Glu
NM_000412.4:c.308G>A , LRG_601t1:c.308G>A (HRG) NP_000403.1:p.Gly103Glu
XM_005247415.3:c.308G>A (HRG) XP_005247472.1:p.Gly103Glu
XR_924801.1:n.290-18074C>T (HRG-AS1)
XM_005247415.4:c.308G>A (HRG) XP_005247472.1:p.Gly103Glu
XR_001741059.1:n.291-18074C>T (HRG-AS1)
XR_924801.2:n.291-18074C>T (HRG-AS1)
NM_000412.5:c.308G>A (HRG) MANE Select NP_000403.1:p.Gly103Glu