Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.192811806A>G , CM000663.2:g.192811806A>G | GRCh38 |
| NC_000001.10:g.192780936A>G , CM000663.1:g.192780936A>G | GRCh37 |
| NC_000001.9:g.191047559A>G | NCBI36 |
| NG_012800.1:g.7768A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000235382.7:c.*210A>G MANE Select | ENSP00000235382.5:n.*210A>G | |
| ENST00000235382.6:c.*210A>G | ENSP00000235382.5:n.*210A>G | |
| NM_002923.3:c.*210A>G | NP_002914.1:n.*210A>G | |
| NM_002923.4:c.*210A>G MANE Select | NP_002914.1:n.*210A>G |