Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.20637835A>G , CM000663.2:g.20637835A>G | GRCh38 |
| NC_000001.10:g.20964328A>G , CM000663.1:g.20964328A>G | GRCh37 |
| NC_000001.9:g.20836915A>G | NCBI36 |
| NG_008164.1:g.9381A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_032409.3:c.388-7A>G MANE Select | NP_115785.1:n.388-7A>G |
| ENST00000321556.5:c.388-7A>G MANE Select | ENSP00000364204.3:n.388-7A>G |
| NM_032409.2:c.388-7A>G | NP_115785.1:n.388-7A>G |
| ENST00000321556.4:c.388-7A>G | ENSP00000364204.3:n.388-7A>G |