Canonical Allele Identifier: CA810570546
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.40323836A>T , CM000667.2:g.40323836A>T GRCh38
NC_000005.9:g.40323938A>T , CM000667.1:g.40323938A>T GRCh37
NC_000005.8:g.40359695A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_925937.1:n.250+3612T>A
XR_925940.1:n.250+3612T>A
XR_001742647.1:n.204+3612T>A
XR_001742649.1:n.204+3612T>A
XR_925938.2:n.204+3612T>A