Canonical Allele Identifier: CA507448013
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.39679413G>C , CM000681.2:g.39679413G>C GRCh38
NC_000019.9:g.40170053G>C , CM000681.1:g.40170053G>C GRCh37
NC_000019.8:g.44861893G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000598164.3:n.40G>C
ENST00000412609.5:n.40G>C
ENST00000458539.5:n.21G>C
ENST00000598304.5:n.21G>C
ENST00000598736.5:n.21G>C
NR_034156.1:n.40G>C