Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81490099G>A , CM000665.2:g.81490099G>A | GRCh38 |
| NC_000003.11:g.81539250G>A , CM000665.1:g.81539250G>A | GRCh37 |
| NC_000003.10:g.81621940G>A | NCBI36 |
| NG_011810.1:g.276702C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000158.4:c.*308C>T MANE Select | NP_000149.4:n.*308C>T |
| ENST00000429644.7:c.*308C>T MANE Select | ENSP00000410833.2:n.*308C>T |
| NM_000158.3:c.*308C>T | NP_000149.3:n.*308C>T |
| ENST00000429644.6:c.*308C>T | ENSP00000410833.2:n.*308C>T |
| ENST00000489715.1:c.*308C>T | ENSP00000419638.1:n.*308C>T |