Canonical Allele Identifier: CA2521055406
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.160668521G>A , CM000668.2:g.160668521G>A GRCh38
NC_000006.11:g.161089553G>A , CM000668.1:g.161089553G>A GRCh37
NC_000006.10:g.161009543G>A NCBI36
NG_016147.1:g.2855C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000452651.1:n.115-2148C>T