Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.101226133T>C , CM000665.2:g.101226133T>C | GRCh38 |
| NC_000003.11:g.100944977T>C , CM000665.1:g.100944977T>C | GRCh37 |
| NC_000003.10:g.102427667T>C | NCBI36 |
| NG_028284.1:g.99443A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000193391.8:c.*836A>G MANE Select | ENSP00000193391.6:n.*836A>G | |
| ENST00000193391.7:c.*836A>G | ENSP00000193391.6:n.*836A>G | |
| NM_016247.3:c.*836A>G | NP_057331.2:n.*836A>G | |
| XM_011512872.1:c.*836A>G | XP_011511174.1:n.*836A>G | |
| NM_016247.4:c.*836A>G MANE Select | NP_057331.2:n.*836A>G |