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