Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.72123704A>T , CM000679.2:g.72123704A>T | GRCh38 |
| NC_000017.10:g.70119845A>T , CM000679.1:g.70119845A>T | GRCh37 |
| NC_000017.9:g.67631440A>T | NCBI36 |
| NG_012490.1:g.7685A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245479.3:c.847A>T MANE Select | ENSP00000245479.2:p.Ile283Phe | |
| ENST00000245479.2:c.847A>T | ENSP00000245479.2:p.Ile283Phe | |
| NM_000346.3:c.847A>T | NP_000337.1:p.Ile283Phe | |
| NM_000346.4:c.847A>T MANE Select | NP_000337.1:p.Ile283Phe |