Canonical Allele Identifier: CA190667251
Gene:

Linked Data

dbSNP Id: rs749712356
gnomAD v3: 9-21755921-G-A
gnomAD v4: 9-21755921-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21755921G>A , CM000671.2:g.21755921G>A GRCh38
NC_000009.11:g.21755920G>A , CM000671.1:g.21755920G>A GRCh37
NC_000009.10:g.21745920G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001746563.2:n.163+11904C>T