Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42909303G>A , CM000679.2:g.42909303G>A | GRCh38 |
| NC_000017.10:g.41061320G>A , CM000679.1:g.41061320G>A | GRCh37 |
| NC_000017.9:g.38314846G>A | NCBI36 |
| NG_011808.1:g.13506G>A , LRG_147:g.13506G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000151.4:c.447G>A MANE Select | NP_000142.2:p.Arg149= |
| ENST00000253801.7:c.447G>A MANE Select | ENSP00000253801.1:p.Arg149= |
| NM_000151.3:c.447G>A | NP_000142.2:p.Arg149= |
| NM_001270397.1:c.370G>A | NP_001257326.1:p.Val124Met |
| NM_001270397.2:c.370G>A | NP_001257326.1:p.Val124Met |
| ENST00000253801.6:c.447G>A | ENSP00000253801.1:p.Arg149= |
| ENST00000585489.1:c.447-1612G>A | ENSP00000466202.1:n.447-1612G>A |
| ENST00000592383.5:c.370G>A | ENSP00000465958.1:p.Val124Met |