Canonical Allele Identifier: CA182463736
Gene:

Linked Data

dbSNP Id: rs145818894
gnomAD v2: 8-98282033-G-A
gnomAD v3: 8-97269805-G-A
gnomAD v4: 8-97269805-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.97269805G>A , CM000670.2:g.97269805G>A GRCh38
NC_000008.10:g.98282033G>A , CM000670.1:g.98282033G>A GRCh37
NC_000008.9:g.98351209G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_125390.1:n.471+149265C>T