Canonical Allele Identifier: CA2838532850
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.52841014G>A , CM000664.2:g.52841014G>A GRCh38
NC_000002.11:g.53068152G>A , CM000664.1:g.53068152G>A GRCh37
NC_000002.10:g.52921656G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_940086.1:n.215+56229C>T
XR_001739464.2:n.395+56229C>T
XR_002959384.1:n.246+56229C>T
XR_002959385.1:n.396-46158C>T