Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.89382793G>T , CM000663.2:g.89382793G>T | GRCh38 |
| NC_000001.10:g.89848352G>T , CM000663.1:g.89848352G>T | GRCh37 |
| NC_000001.9:g.89620940G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370456.5:c.1282G>T MANE Select | ENSP00000359485.5:p.Val428Phe | |
| ENST00000370456.4:c.1282G>T | ENSP00000359485.4:p.Val428Phe | |
| NM_198460.2:c.1282G>T | NP_940862.2:p.Val428Phe | |
| XM_005270549.3:c.892G>T | XP_005270606.1:p.Val298Phe | |
| XM_011540835.1:c.1282G>T | XP_011539137.1:p.Val428Phe | |
| NM_001320257.1:c.892G>T | NP_001307186.1:p.Val298Phe | |
| XM_011540835.3:c.1282G>T | XP_011539137.1:p.Val428Phe | |
| NM_198460.3:c.1282G>T MANE Select | NP_940862.2:p.Val428Phe | |
| NM_001320257.2:c.892G>T | NP_001307186.1:p.Val298Phe |