Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44118513T>A , CM000682.2:g.44118513T>A | GRCh38 |
| NC_000020.10:g.42747153T>A , CM000682.1:g.42747153T>A | GRCh37 |
| NC_000020.9:g.42180567T>A | NCBI36 |
| NG_031867.1:g.74066A>T , LRG_394:g.74066A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020433.5:c.1280A>T MANE Select | NP_065166.2:p.Tyr427Phe |
| ENST00000372980.4:c.1280A>T MANE Select | ENSP00000362071.3:p.Tyr427Phe |
| NM_020433.4:c.1280A>T , LRG_394t1:c.1280A>T | NP_065166.2:p.Tyr427Phe |
| ENST00000372980.3:c.1280A>T | ENSP00000362071.3:p.Tyr427Phe |
| XM_006723832.2:c.1280A>T | XP_006723895.1:p.Tyr427Phe |