Canonical Allele Identifier: CA565407115
Gene:

Linked Data

dbSNP Id: rs1298770681
gnomAD v2: 6-8228841-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.8228608G>A , CM000668.2:g.8228608G>A GRCh38
NC_000006.11:g.8228841G>A , CM000668.1:g.8228841G>A GRCh37
NC_000006.10:g.8173840G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_926440.1:n.83-1506G>A
XR_926441.1:n.190-10323G>A
XR_926442.1:n.83-1506G>A
XR_926443.1:n.83-10323G>A
XR_001743950.1:n.180-10323G>A
XR_926440.2:n.75-1506G>A
XR_926441.2:n.180-10323G>A
XR_926443.2:n.84-10323G>A