| HGVS | Genome Assembly | 
|---|---|
| NC_000002.12:g.85581859T= , CM000664.2:g.85581859T= | GRCh38 | 
| NC_000002.11:g.85808982T= , CM000664.1:g.85808982T= | GRCh37 | 
| NC_000002.10:g.85662493T= | NCBI36 | 
| NG_022887.1:g.9369T= | 
| HGVS | Amino-acid Change | 
|---|---|
| NM_003761.5:c.*143T= MANE Select | NP_003752.2:n.*143T= | 
| ENST00000263864.10:c.*143T= MANE Select | ENSP00000263864.5:n.*143T= | 
| NM_003761.4:c.*143T= | NP_003752.2:n.*143T= | 
| ENST00000263864.9:c.*143T= | ENSP00000263864.5:n.*143T= | 
| ENST00000409760.1:c.*279T= | ENSP00000387094.1:n.*279T= | 
| ENST00000432071.1:c.*143T= | ENSP00000407984.1:n.*143T= | 
| XM_017005170.1:c.*279T= | XP_016860659.1:n.*279T= |