Canonical Allele Identifier:
CA51315482
Gene:
Linked Data
dbSNP Id:
rs10496262
gnomAD v2:
2-81751124-C-A
gnomAD v3:
2-81524000-C-A
gnomAD v4:
2-81524000-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.81524000C>A , CM000664.2:g.81524000C>A | GRCh38 |
| NC_000002.11:g.81751124C>A , CM000664.1:g.81751124C>A | GRCh37 |
| NC_000002.10:g.81604635C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XR_427049.2:n.356-24618C>A | ||
| XR_940294.1:n.356-24618C>A | ||
| XR_940295.1:n.356-24618C>A | ||
| XR_940296.1:n.356-24618C>A | ||
| XR_940297.1:n.356-24618C>A | ||
| XR_940298.1:n.356-24618C>A | ||
| XR_940299.1:n.356-24618C>A | ||
| XR_001739571.1:n.356-24618C>A | ||
| XR_940299.2:n.356-24618C>A |