Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81649875G>A , CM000665.2:g.81649875G>A | GRCh38 |
| NC_000003.11:g.81699026G>A , CM000665.1:g.81699026G>A | GRCh37 |
| NC_000003.10:g.81781716G>A | NCBI36 |
| NG_011810.1:g.116926C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000158.4:c.476C>T MANE Select | NP_000149.4:p.Pro159Leu |
| ENST00000429644.7:c.476C>T MANE Select | ENSP00000410833.2:p.Pro159Leu |
| NM_000158.3:c.476C>T | NP_000149.3:p.Pro159Leu |
| ENST00000429644.6:c.476C>T | ENSP00000410833.2:p.Pro159Leu |
| ENST00000486920.1:n.472C>T | |
| ENST00000489715.1:c.353C>T | ENSP00000419638.1:p.Pro118Leu |
| ENST00000498468.1:n.4C>T |