Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42909356G>A , CM000679.2:g.42909356G>A | GRCh38 |
| NC_000017.10:g.41061373G>A , CM000679.1:g.41061373G>A | GRCh37 |
| NC_000017.9:g.38314899G>A | NCBI36 |
| NG_011808.1:g.13559G>A , LRG_147:g.13559G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000151.4:c.500G>A MANE Select | NP_000142.2:p.Cys167Tyr |
| ENST00000253801.7:c.500G>A MANE Select | ENSP00000253801.1:p.Cys167Tyr |
| NM_000151.3:c.500G>A | NP_000142.2:p.Cys167Tyr |
| NM_001270397.1:c.423G>A | NP_001257326.1:p.Leu141= |
| NM_001270397.2:c.423G>A | NP_001257326.1:p.Leu141= |
| ENST00000253801.6:c.500G>A | ENSP00000253801.1:p.Cys167Tyr |
| ENST00000585489.1:c.447-1559G>A | ENSP00000466202.1:n.447-1559G>A |
| ENST00000592383.5:c.423G>A | ENSP00000465958.1:p.Leu141= |