Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28320416C>G , CM000678.2:g.28320416C>G | GRCh38 |
| NC_000016.9:g.28331737C>G , CM000678.1:g.28331737C>G | GRCh37 |
| NC_000016.8:g.28239238C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001024401.3:c.770C>G MANE Select | NP_001019572.1:p.Ser257Trp |
| ENST00000341901.5:c.770C>G MANE Select | ENSP00000343248.4:p.Ser257Trp |
| NM_001024401.2:c.770C>G | NP_001019572.1:p.Ser257Trp |
| ENST00000341901.4:c.770C>G | ENSP00000343248.4:p.Ser257Trp |
| ENST00000671413.3:c.1034C>G | ENSP00000499661.3:p.Ser345Trp |
| XM_005255315.2:c.872C>G | XP_005255372.1:p.Ser291Trp |
| XM_005255315.4:c.872C>G | XP_005255372.1:p.Ser291Trp |