Canonical Allele Identifier:
CA198618890
Gene:
Linked Data
dbSNP Id:
rs12685977
gnomAD v2:
9-113998915-A-G
gnomAD v3:
9-111236635-A-G
gnomAD v4:
9-111236635-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.111236635A>G , CM000671.2:g.111236635A>G | GRCh38 |
| NC_000009.11:g.113998915A>G , CM000671.1:g.113998915A>G | GRCh37 |
| NC_000009.10:g.113038736A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XR_930247.1:n.476+36178T>C | ||
| XR_930248.1:n.556+36178T>C | ||
| XR_930249.1:n.476+36178T>C | ||
| XR_001746893.1:n.476+36178T>C | ||
| XR_001746894.1:n.476+36178T>C | ||
| XR_930247.2:n.476+36178T>C |