Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119921805G>T , CM000663.2:g.119921805G>T | GRCh38 |
| NC_000001.10:g.120464428G>T , CM000663.1:g.120464428G>T | GRCh37 |
| NC_000001.9:g.120265951G>T | NCBI36 |
| NG_008163.1:g.152849C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_024408.4:c.5218C>A MANE Select | NP_077719.2:p.Leu1740Ile |
| ENST00000256646.7:c.5218C>A MANE Select | ENSP00000256646.2:p.Leu1740Ile |
| NM_024408.3:c.5218C>A | NP_077719.2:p.Leu1740Ile |
| ENST00000256646.6:c.5218C>A | ENSP00000256646.2:p.Leu1740Ile |
| XM_005270901.2:c.5101C>A | XP_005270958.1:p.Leu1701Ile |
| XM_011541519.1:c.5206C>A | XP_011539821.1:p.Leu1736Ile |
| XM_011541520.1:c.5101C>A | XP_011539822.1:p.Leu1701Ile |