Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42909353T>C , CM000679.2:g.42909353T>C | GRCh38 |
| NC_000017.10:g.41061370T>C , CM000679.1:g.41061370T>C | GRCh37 |
| NC_000017.9:g.38314896T>C | NCBI36 |
| NG_011808.1:g.13556T>C , LRG_147:g.13556T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000151.4:c.497T>C MANE Select | NP_000142.2:p.Val166Ala |
| ENST00000253801.7:c.497T>C MANE Select | ENSP00000253801.1:p.Val166Ala |
| NM_000151.3:c.497T>C | NP_000142.2:p.Val166Ala |
| NM_001270397.1:c.420T>C | NP_001257326.1:p.Cys140= |
| NM_001270397.2:c.420T>C | NP_001257326.1:p.Cys140= |
| ENST00000253801.6:c.497T>C | ENSP00000253801.1:p.Val166Ala |
| ENST00000585489.1:c.447-1562T>C | ENSP00000466202.1:n.447-1562T>C |
| ENST00000592383.5:c.420T>C | ENSP00000465958.1:p.Cys140= |