Canonical Allele Identifier: CA397317914

Linked Data

ClinVar Variation Id: 1679420
ClinVar RCV Id: RCV002227300
dbSNP Id: rs574742436

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4933261C>A , CM000679.2:g.4933261C>A GRCh38
NC_000017.10:g.4836556C>A , CM000679.1:g.4836556C>A GRCh37
NC_000017.9:g.4777336C>A NCBI36
NG_008767.2:g.5967C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000329125.6:c.657C>A (GP1BA) MANE Select ENSP00000329380.5:p.His219Gln
ENST00000649830.1:c.-888+1081G>T (CHRNE) ENSP00000496907.1:n.-888+1081G>T
ENST00000329125.5:c.657C>A (GP1BA) ENSP00000329380.5:p.His219Gln
ENST00000611961.1:c.657C>A (GP1BA) ENSP00000484439.1:p.His219Gln
NM_000173.6:c.657C>A (GP1BA) NP_000164.5:p.His219Gln
NM_000173.7:c.657C>A (GP1BA) MANE Select NP_000164.5:p.His219Gln