Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.2792652C>G , CM000663.2:g.2792652C>G | GRCh38 |
| NC_000001.10:g.2709217C>G , CM000663.1:g.2709217C>G | GRCh37 |
| NC_000001.9:g.2699077C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000401095.9:c.785-2306G>C MANE Select | ENSP00000383873.4:n.785-2306G>C | |
| ENST00000401095.8:c.785-2306G>C | ENSP00000383873.4:n.785-2306G>C | |
| NM_001242672.2:c.785-2306G>C | NP_001229601.2:n.785-2306G>C | |
| NM_001242672.3:c.785-2306G>C MANE Select | NP_001229601.2:n.785-2306G>C |