Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.2792609C>A , CM000663.2:g.2792609C>A | GRCh38 |
| NC_000001.10:g.2709174C>A , CM000663.1:g.2709174C>A | GRCh37 |
| NC_000001.9:g.2699034C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000401095.9:c.785-2263G>T MANE Select | ENSP00000383873.4:n.785-2263G>T | |
| ENST00000401095.8:c.785-2263G>T | ENSP00000383873.4:n.785-2263G>T | |
| NM_001242672.2:c.785-2263G>T | NP_001229601.2:n.785-2263G>T | |
| NM_001242672.3:c.785-2263G>T MANE Select | NP_001229601.2:n.785-2263G>T |