Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46000344T>G , CM000683.2:g.46000344T>G | GRCh38 |
| NC_000021.8:g.47420258T>G , CM000683.1:g.47420258T>G | GRCh37 |
| NC_000021.7:g.46244686T>G | NCBI36 |
| NG_008674.1:g.23596T>G , LRG_475:g.23596T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001848.3:c.1790T>G MANE Select | NP_001839.2:p.Leu597Trp |
| ENST00000361866.8:c.1790T>G MANE Select | ENSP00000355180.3:p.Leu597Trp |
| NM_001848.2:c.1790T>G , LRG_475t1:c.1790T>G | NP_001839.2:p.Leu597Trp |
| ENST00000361866.7:c.1790T>G | ENSP00000355180.3:p.Leu597Trp |
| ENST00000466285.1:n.307T>G | |
| ENST00000612273.1:c.1790T>G | ENSP00000483630.1:p.Leu597Trp |