Canonical Allele Identifier: CA908188462
Gene:

Linked Data

dbSNP Id: rs1378488813

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.53057134G>A , CM000665.2:g.53057134G>A GRCh38
NC_000003.11:g.53091150G>A , CM000665.1:g.53091150G>A GRCh37
NC_000003.10:g.53066190G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000607203.1:c.318-9895C>T
ENST00000607283.5:c.465-13880C>T
ENST00000607495.5:c.447+20554C>T