Canonical Allele Identifier: CA2510619719

Gene:

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.20218438A>T , CM000681.2:g.20218438A>T	GRCh38
NC_000019.9:g.20329247A>T , CM000681.1:g.20329247A>T	GRCh37
NC_000019.8:g.20190247A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_936388.1:n.619-1122T>A
XR_936389.1:n.502-1122T>A
XR_936390.1:n.511-1122T>A
XR_936391.1:n.514-1122T>A
XR_936392.1:n.514-1122T>A
XR_936394.1:n.41-296A>T
XR_001754063.2:n.1506-1122T>A
XR_001754064.2:n.138-1122T>A
XR_001754066.1:n.3912-1122T>A
XR_001754067.1:n.3912-1122T>A
XR_001754068.1:n.3912-1122T>A
XR_936394.2:n.41-296A>T
XR_936406.2:n.1411-1122T>A