Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42911342T>G , CM000679.2:g.42911342T>G | GRCh38 |
| NC_000017.10:g.41063359T>G , CM000679.1:g.41063359T>G | GRCh37 |
| NC_000017.9:g.38316885T>G | NCBI36 |
| NG_011808.1:g.15545T>G , LRG_147:g.15545T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253801.7:c.990T>G MANE Select | ENSP00000253801.1:p.Ser330Arg | |
| ENST00000253801.6:c.990T>G | ENSP00000253801.1:p.Ser330Arg | |
| ENST00000585489.1:c.*382T>G | ENSP00000466202.1:n.*382T>G | |
| NM_000151.3:c.990T>G | NP_000142.2:p.Ser330Arg | |
| NM_001270397.1:c.*382T>G | NP_001257326.1:n.*382T>G | |
| NM_000151.4:c.990T>G MANE Select | NP_000142.2:p.Ser330Arg | |
| NM_001270397.2:c.*382T>G | NP_001257326.1:n.*382T>G |