Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42909394C>T , CM000679.2:g.42909394C>T | GRCh38 |
| NC_000017.10:g.41061411C>T , CM000679.1:g.41061411C>T | GRCh37 |
| NC_000017.9:g.38314937C>T | NCBI36 |
| NG_011808.1:g.13597C>T , LRG_147:g.13597C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000151.4:c.538C>T MANE Select | NP_000142.2:p.Gln180Ter |
| ENST00000253801.7:c.538C>T MANE Select | ENSP00000253801.1:p.Gln180Ter |
| NM_000151.3:c.538C>T | NP_000142.2:p.Gln180Ter |
| NM_001270397.1:c.461C>T | NP_001257326.1:p.Ser154Leu |
| NM_001270397.2:c.461C>T | NP_001257326.1:p.Ser154Leu |
| ENST00000253801.6:c.538C>T | ENSP00000253801.1:p.Gln180Ter |
| ENST00000585489.1:c.447-1521C>T | ENSP00000466202.1:n.447-1521C>T |
| ENST00000592383.5:c.461C>T | ENSP00000465958.1:p.Ser154Leu |