Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119916680C>G , CM000663.2:g.119916680C>G | GRCh38 |
| NC_000001.10:g.120459303C>G , CM000663.1:g.120459303C>G | GRCh37 |
| NC_000001.9:g.120260826C>G | NCBI36 |
| NG_008163.1:g.157974G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_024408.4:c.6042G>C MANE Select | NP_077719.2:p.Leu2014= |
| ENST00000256646.7:c.6042G>C MANE Select | ENSP00000256646.2:p.Leu2014= |
| NM_024408.3:c.6042G>C | NP_077719.2:p.Leu2014= |
| ENST00000256646.6:c.6042G>C | ENSP00000256646.2:p.Leu2014= |
| XM_005270901.2:c.5925G>C | XP_005270958.1:p.Leu1975= |
| XM_011541519.1:c.6030G>C | XP_011539821.1:p.Leu2010= |
| XM_011541520.1:c.5925G>C | XP_011539822.1:p.Leu1975= |