Canonical Allele Identifier: CA439108452
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.40044067C>G , CM000666.2:g.40044067C>G GRCh38
NC_000004.11:g.40045687C>G , CM000666.1:g.40045687C>G GRCh37
NC_000004.10:g.39722082C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000381811.2:n.463G>C
ENST00000507914.2:n.69G>C
NR_027277.2:n.463G>C