Canonical Allele Identifier: CA12990278
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.82696232C>T , CM000671.2:g.82696232C>T GRCh38
NC_000009.11:g.85311147C>T , CM000671.1:g.85311147C>T GRCh37
NC_000009.10:g.84500967C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000637606.1:n.986-83647C>T
XR_001746782.1:n.242-83647C>T