Canonical Allele Identifier: CA14408152
Community Standard Title: NC_000017.11:g.63919146C>A
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63919146C>A , CM000679.2:g.63919146C>A GRCh38
NC_000017.10:g.61996506C>A , CM000679.1:g.61996506C>A GRCh37
NC_000017.9:g.59350238C>A NCBI36
NG_011676.1:g.4693G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647774.1:c.289-640G>T