Canonical Allele Identifier: CA1158268040
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.22146917T>A , CM000663.2:g.22146917T>A GRCh38
NC_000001.10:g.22473410T>A , CM000663.1:g.22473410T>A GRCh37
NC_000001.9:g.22345997T>A NCBI36
NG_008974.1:g.1110A>T

Transcript Alleles

HGVS Amino-acid Change
XR_947049.1:n.82+4013T>A
XR_947050.1:n.53+5912T>A
XR_947051.1:n.47+3926T>A
XR_947053.1:n.82+4013T>A
XR_947054.1:n.82+4013T>A
XR_947055.1:n.82+4013T>A
XR_001737923.1:n.52+3926T>A
XR_001737924.1:n.52+3926T>A
XR_001737925.1:n.52+3926T>A
XR_947051.2:n.52+3926T>A