Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.29534126G>T , CM000679.2:g.29534126G>T | GRCh38 |
| NC_000017.10:g.27861144G>T , CM000679.1:g.27861144G>T | GRCh37 |
| NC_000017.9:g.24885270G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261716.8:c.2370G>T MANE Select | ENSP00000261716.3:p.Leu790Phe | |
| ENST00000261716.7:c.2370G>T | ENSP00000261716.3:p.Leu790Phe | |
| ENST00000536202.1:c.1926G>T | ENSP00000438819.1:p.Leu642Phe | |
| NM_020791.2:c.2370G>T | NP_065842.1:p.Leu790Phe | |
| NM_025142.1:c.1926G>T | NP_079418.1:p.Leu642Phe | |
| XM_011525060.1:c.2370G>T | XP_011523362.1:p.Leu790Phe | |
| XM_011525060.2:c.2370G>T | XP_011523362.1:p.Leu790Phe | |
| NM_020791.4:c.2370G>T MANE Select | NP_065842.1:p.Leu790Phe |