Canonical Allele Identifier: CA822464814
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.169420286T>G , CM000668.2:g.169420286T>G GRCh38
NC_000006.11:g.169820381T>G , CM000668.1:g.169820381T>G GRCh37
NC_000006.10:g.169562306T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000648086.1:c.*875A>C ENSP00000497979.1:n.*875A>C
ENST00000650382.1:n.2014A>C