Canonical Allele Identifier: CA1618480205
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.29854484G>T , CM000668.2:g.29854484G>T GRCh38
NC_000006.11:g.29822261G>T , CM000668.1:g.29822261G>T GRCh37
NC_000006.10:g.29930240G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000647952.1:n.2156-1998C>A
XR_926680.1:n.42-1998C>A
XR_926681.1:n.42-1998C>A
XR_926682.1:n.42-1998C>A
XR_926680.2:n.42-1998C>A
XR_926681.2:n.42-1998C>A
XR_926682.2:n.42-1998C>A