Canonical Allele Identifier: CA2327233299
Gene:

Linked Data

dbSNP Id: rs982678393

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.20218446C>A , CM000681.2:g.20218446C>A GRCh38
NC_000019.9:g.20329255C>A , CM000681.1:g.20329255C>A GRCh37
NC_000019.8:g.20190255C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_936388.1:n.619-1130G>T
XR_936389.1:n.502-1130G>T
XR_936390.1:n.511-1130G>T
XR_936391.1:n.514-1130G>T
XR_936392.1:n.514-1130G>T
XR_936394.1:n.41-288C>A
XR_001754063.2:n.1506-1130G>T
XR_001754064.2:n.138-1130G>T
XR_001754066.1:n.3912-1130G>T
XR_001754067.1:n.3912-1130G>T
XR_001754068.1:n.3912-1130G>T
XR_936394.2:n.41-288C>A
XR_936406.2:n.1411-1130G>T