Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119949028A>G , CM000663.2:g.119949028A>G | GRCh38 |
| NC_000001.10:g.120491651A>G , CM000663.1:g.120491651A>G | GRCh37 |
| NC_000001.9:g.120293174A>G | NCBI36 |
| NG_008163.1:g.125626T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_024408.4:c.2578T>C MANE Select | NP_077719.2:p.Leu860= |
| ENST00000256646.7:c.2578T>C MANE Select | ENSP00000256646.2:p.Leu860= |
| NM_001200001.1:c.2578T>C | NP_001186930.1:p.Leu860= |
| NM_001200001.2:c.2578T>C | NP_001186930.1:p.Leu860= |
| NM_024408.3:c.2578T>C | NP_077719.2:p.Leu860= |
| ENST00000256646.6:c.2578T>C | ENSP00000256646.2:p.Leu860= |
| XM_005270901.2:c.2461T>C | XP_005270958.1:p.Leu821= |
| XM_011541519.1:c.2566T>C | XP_011539821.1:p.Leu856= |
| XM_011541520.1:c.2461T>C | XP_011539822.1:p.Leu821= |