Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46003118A>G , CM000683.2:g.46003118A>G | GRCh38 |
| NC_000021.8:g.47423032A>G , CM000683.1:g.47423032A>G | GRCh37 |
| NC_000021.7:g.46247460A>G | NCBI36 |
| NG_008674.1:g.26370A>G , LRG_475:g.26370A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463060.6:n.834-2A>G | ||
| ENST00000612273.2:c.561-2A>G | ||
| ENST00000682634.1:c.561-2A>G | ||
| ENST00000361866.8:c.2435-2A>G MANE Select | ENSP00000355180.3:n.2435-2A>G | |
| ENST00000361866.7:c.2435-2A>G | ENSP00000355180.3:n.2435-2A>G | |
| ENST00000463060.5:n.834-2A>G | ||
| ENST00000486023.1:n.223-2A>G | ||
| ENST00000498614.5:n.669-2A>G | ||
| ENST00000612273.1:c.2429-2A>G | ENSP00000483630.1:n.2429-2A>G | |
| NM_001848.2:c.2435-2A>G , LRG_475t1:c.2435-2A>G | NP_001839.2:n.2435-2A>G | |
| NM_001848.3:c.2435-2A>G MANE Select | NP_001839.2:n.2435-2A>G |