dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122461028G>T , CM000672.2:g.122461028G>T | GRCh38 |
| NC_000010.10:g.124220544G>T , CM000672.1:g.124220544G>T | GRCh37 |
| NC_000010.9:g.124210534G>T | NCBI36 |
| NG_011554.1:g.4504G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648167.1:c.154+2319G>T | ENSP00000498033.1:n.154+2319G>T | |
| XR_946382.1:n.331C>A | ||
| XR_946383.1:n.331C>A | ||
| XR_946384.1:n.331C>A | ||
| XR_946385.1:n.331C>A | ||
| XR_946382.2:n.359C>A | ||
| XR_946383.2:n.359C>A | ||
| XR_946384.2:n.335C>A | ||
| XR_946385.2:n.359C>A |