Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.2792599C= , CM000663.2:g.2792599C= | GRCh38 |
| NC_000001.10:g.2709164C= , CM000663.1:g.2709164C= | GRCh37 |
| NC_000001.9:g.2699024C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000401095.9:c.785-2253G= MANE Select | ENSP00000383873.4:n.785-2253G= | |
| ENST00000401095.8:c.785-2253G= | ENSP00000383873.4:n.785-2253G= | |
| NM_001242672.2:c.785-2253G= | NP_001229601.2:n.785-2253G= | |
| NM_001242672.3:c.785-2253G= MANE Select | NP_001229601.2:n.785-2253G= |