Canonical Allele Identifier: CA1139918997
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.192800696C= , CM000663.2:g.192800696C= GRCh38
NC_000001.10:g.192769826C= , CM000663.1:g.192769826C= GRCh37
NC_000001.9:g.191036449C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000429211.2:n.126C=