Canonical Allele Identifier: CA2778867716
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.5907258C>T , CM000670.2:g.5907258C>T GRCh38
NC_000008.10:g.5764780C>T , CM000670.1:g.5764780C>T GRCh37
NC_000008.9:g.5752188C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_941374.1:n.308-7527G>A
XR_941375.1:n.308-7527G>A
XR_941376.1:n.406-7527G>A
XR_941377.1:n.308-7527G>A
XR_941378.1:n.216-7527G>A
XR_001745765.1:n.308-7527G>A
XR_001745766.1:n.406-7527G>A
XR_001745767.1:n.216-7527G>A
XR_001745768.1:n.308-7527G>A
XR_941374.2:n.308-7527G>A
XR_941375.2:n.308-7527G>A