Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218893219T>G , CM000664.2:g.218893219T>G | GRCh38 |
| NC_000002.11:g.219757941T>G , CM000664.1:g.219757941T>G | GRCh37 |
| NC_000002.10:g.219466185T>G | NCBI36 |
| NG_012179.1:g.17687T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258411.8:c.1202T>G MANE Select | ENSP00000258411.3:p.Phe401Cys | |
| ENST00000258411.7:c.1202T>G | ENSP00000258411.3:p.Phe401Cys | |
| NM_025216.2:c.1202T>G | NP_079492.2:p.Phe401Cys | |
| XM_011511928.1:c.1151T>G | XP_011510230.1:p.Phe384Cys | |
| XM_011511929.1:c.1106T>G | XP_011510231.1:p.Phe369Cys | |
| XM_011511930.1:c.822T>G | XP_011510232.1:p.Phe274Leu | |
| XM_011511929.2:c.1106T>G | XP_011510231.1:p.Phe369Cys | |
| NM_025216.3:c.1202T>G MANE Select | NP_079492.2:p.Phe401Cys |