gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122459759C>A , CM000672.2:g.122459759C>A | GRCh38 |
| NC_000010.10:g.124219275C>A , CM000672.1:g.124219275C>A | GRCh37 |
| NC_000010.9:g.124209265C>A | NCBI36 |
| NG_011554.1:g.3235C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648167.1:c.154+1050C>A | ENSP00000498033.1:n.154+1050C>A | |
| XR_946382.1:n.563G>T | ||
| XR_946383.1:n.563G>T | ||
| XR_946384.1:n.563G>T | ||
| XR_946385.1:n.563G>T | ||
| XR_946382.2:n.591G>T | ||
| XR_946383.2:n.591G>T | ||
| XR_946384.2:n.567G>T | ||
| XR_946385.2:n.591G>T |