Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42909407G>T , CM000679.2:g.42909407G>T | GRCh38 |
| NC_000017.10:g.41061424G>T , CM000679.1:g.41061424G>T | GRCh37 |
| NC_000017.9:g.38314950G>T | NCBI36 |
| NG_011808.1:g.13610G>T , LRG_147:g.13610G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253801.7:c.551G>T MANE Select | ENSP00000253801.1:p.Gly184Val | |
| ENST00000253801.6:c.551G>T | ENSP00000253801.1:p.Gly184Val | |
| ENST00000585489.1:c.447-1508G>T | ENSP00000466202.1:n.447-1508G>T | |
| ENST00000592383.5:c.474G>T | ENSP00000465958.1:p.Trp158Cys | |
| NM_000151.3:c.551G>T | NP_000142.2:p.Gly184Val | |
| NM_001270397.1:c.474G>T | NP_001257326.1:p.Trp158Cys | |
| NM_000151.4:c.551G>T MANE Select | NP_000142.2:p.Gly184Val | |
| NM_001270397.2:c.474G>T | NP_001257326.1:p.Trp158Cys |