Canonical Allele Identifier: CA2814189947

Gene:

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33522094G>T , CM000681.2:g.33522094G>T	GRCh38
NC_000019.9:g.34013000G>T , CM000681.1:g.34013000G>T	GRCh37
NC_000019.8:g.38704840G>T	NCBI36
NG_013358.1:g.4800C>A
NG_013358.2:g.4800C>A

Transcript Alleles

HGVS	Amino-acid Change
XR_935918.1:n.73+80G>T
XR_935919.1:n.72+76G>T
XR_001754035.2:n.81+80G>T
XR_935918.2:n.81+80G>T