Canonical Allele Identifier: CA2838439511
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.117437118G>T , CM000671.2:g.117437118G>T GRCh38
NC_000009.11:g.120199396G>T , CM000671.1:g.120199396G>T GRCh37
NC_000009.10:g.119239217G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_930281.1:n.986C>A
XR_930282.1:n.1009C>A
XR_930283.1:n.1150C>A
XR_930284.1:n.555-174C>A
XR_930285.1:n.986C>A
XR_930286.1:n.986C>A
XR_930287.1:n.986C>A
XR_001746910.1:n.1178C>A
XR_001746911.1:n.1014C>A
XR_001746912.1:n.583-174C>A
XR_001746913.1:n.1014C>A
XR_001746914.1:n.1014C>A
XR_930281.2:n.991C>A
XR_930282.2:n.1014C>A