Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42911173C>T , CM000679.2:g.42911173C>T | GRCh38 |
| NC_000017.10:g.41063190C>T , CM000679.1:g.41063190C>T | GRCh37 |
| NC_000017.9:g.38316716C>T | NCBI36 |
| NG_011808.1:g.15376C>T , LRG_147:g.15376C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000151.4:c.821C>T MANE Select | NP_000142.2:p.Ala274Val |
| ENST00000253801.7:c.821C>T MANE Select | ENSP00000253801.1:p.Ala274Val |
| NM_000151.3:c.821C>T | NP_000142.2:p.Ala274Val |
| NM_001270397.1:c.*213C>T | NP_001257326.1:n.*213C>T |
| NM_001270397.2:c.*213C>T | NP_001257326.1:n.*213C>T |
| ENST00000253801.6:c.821C>T | ENSP00000253801.1:p.Ala274Val |
| ENST00000585489.1:c.*213C>T | ENSP00000466202.1:n.*213C>T |
| ENST00000592383.5:c.*213C>T | ENSP00000465958.1:n.*213C>T |