Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39606083G>T , CM000679.2:g.39606083G>T | GRCh38 |
| NC_000017.10:g.37762336G>T , CM000679.1:g.37762336G>T | GRCh37 |
| NC_000017.9:g.35015862G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006160.4:c.517C>A MANE Select | NP_006151.3:p.Leu173Ile |
| ENST00000302584.5:c.517C>A MANE Select | ENSP00000306754.4:p.Leu173Ile |
| NM_006160.3:c.517C>A | NP_006151.3:p.Leu173Ile |
| ENST00000302584.4:c.517C>A | ENSP00000306754.4:p.Leu173Ile |
| ENST00000580874.1:n.3695C>A | |
| XM_005257409.2:c.541C>A | XP_005257466.1:p.Leu181Ile |
| XM_011524851.1:c.517C>A | XP_011523153.1:p.Leu173Ile |