Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.128891337C>G , CM000673.2:g.128891337C>G | GRCh38 |
| NC_000011.9:g.128761232C>G , CM000673.1:g.128761232C>G | GRCh37 |
| NC_000011.8:g.128266442C>G | NCBI36 |
| NG_023406.2:g.4920C>G , LRG_333:g.4920C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_000890.4:c.-395C>G | NP_000881.3:n.-395C>G | |
| NM_001354169.1:c.-484C>G | NP_001341098.1:n.-484C>G |