Canonical Allele Identifier: CA2714350001
Gene:

Linked Data

dbSNP Id: rs2128585632

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.30897517G>A , CM000669.2:g.30897517G>A GRCh38
NC_000007.13:g.30937132G>A , CM000669.1:g.30937132G>A GRCh37
NC_000007.12:g.30903657G>A NCBI36
NG_007475.2:g.49124G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000509504.2:c.622-14476G>A