Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42909362C>G , CM000679.2:g.42909362C>G | GRCh38 |
| NC_000017.10:g.41061379C>G , CM000679.1:g.41061379C>G | GRCh37 |
| NC_000017.9:g.38314905C>G | NCBI36 |
| NG_011808.1:g.13565C>G , LRG_147:g.13565C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000151.4:c.506C>G MANE Select | NP_000142.2:p.Ser169Ter |
| ENST00000253801.7:c.506C>G MANE Select | ENSP00000253801.1:p.Ser169Ter |
| NM_000151.3:c.506C>G | NP_000142.2:p.Ser169Ter |
| NM_001270397.1:c.429C>G | NP_001257326.1:p.Val143= |
| NM_001270397.2:c.429C>G | NP_001257326.1:p.Val143= |
| ENST00000253801.6:c.506C>G | ENSP00000253801.1:p.Ser169Ter |
| ENST00000585489.1:c.447-1553C>G | ENSP00000466202.1:n.447-1553C>G |
| ENST00000592383.5:c.429C>G | ENSP00000465958.1:p.Val143= |