Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42911300C>A , CM000679.2:g.42911300C>A | GRCh38 |
| NC_000017.10:g.41063317C>A , CM000679.1:g.41063317C>A | GRCh37 |
| NC_000017.9:g.38316843C>A | NCBI36 |
| NG_011808.1:g.15503C>A , LRG_147:g.15503C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000151.4:c.948C>A MANE Select | NP_000142.2:p.Ser316= |
| ENST00000253801.7:c.948C>A MANE Select | ENSP00000253801.1:p.Ser316= |
| NM_000151.3:c.948C>A | NP_000142.2:p.Ser316= |
| NM_001270397.1:c.*340C>A | NP_001257326.1:n.*340C>A |
| NM_001270397.2:c.*340C>A | NP_001257326.1:n.*340C>A |
| ENST00000253801.6:c.948C>A | ENSP00000253801.1:p.Ser316= |
| ENST00000585489.1:c.*340C>A | ENSP00000466202.1:n.*340C>A |
| ENST00000592383.5:c.*340C>A | ENSP00000465958.1:n.*340C>A |