Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189034972T>A , CM000664.2:g.189034972T>A | GRCh38 |
| NC_000002.11:g.189899698T>A , CM000664.1:g.189899698T>A | GRCh37 |
| NC_000002.10:g.189607943T>A | NCBI36 |
| NG_011799.1:g.149908A>T | |
| NG_011799.2:g.149908A>T | |
| NG_011799.3:g.195330A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000393.5:c.4297A>T MANE Select | NP_000384.2:p.Ile1433Phe |
| ENST00000374866.9:c.4297A>T MANE Select | ENSP00000364000.3:p.Ile1433Phe |
| NM_000393.3:c.4297A>T | NP_000384.2:p.Ile1433Phe |
| NM_000393.4:c.4297A>T | NP_000384.2:p.Ile1433Phe |
| ENST00000374866.7:c.4297A>T | ENSP00000364000.3:p.Ile1433Phe |
| ENST00000618828.1:c.3136A>T | ENSP00000482184.1:p.Ile1046Phe |
| XM_011510573.1:c.4159A>T | XP_011508875.1:p.Ile1387Phe |
| XM_011510573.3:c.4159A>T | XP_011508875.1:p.Ile1387Phe |