Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.104490869A>G , CM000670.2:g.104490869A>G | GRCh38 |
| NC_000008.10:g.105503097A>G , CM000670.1:g.105503097A>G | GRCh37 |
| NC_000008.9:g.105572273A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_013437.5:c.2384T>C MANE Select | NP_038465.1:p.Leu795Pro |
| ENST00000276654.10:c.2384T>C MANE Select | ENSP00000276654.5:p.Leu795Pro |
| NM_001135703.2:c.2327T>C | NP_001129175.1:p.Leu776Pro |
| NM_001135703.3:c.2327T>C | NP_001129175.1:p.Leu776Pro |
| NM_013437.4:c.2384T>C | NP_038465.1:p.Leu795Pro |
| ENST00000276654.9:c.2384T>C | ENSP00000276654.5:p.Leu795Pro |
| ENST00000424843.6:c.2327T>C | ENSP00000399148.2:p.Leu776Pro |
| ENST00000518375.1:n.1737T>C |