Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45987539C>G , CM000683.2:g.45987539C>G | GRCh38 |
| NC_000021.8:g.47407453C>G , CM000683.1:g.47407453C>G | GRCh37 |
| NC_000021.7:g.46231881C>G | NCBI36 |
| NG_008674.1:g.10791C>G , LRG_475:g.10791C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361866.8:c.759+20C>G MANE Select | ENSP00000355180.3:n.759+20C>G | |
| ENST00000361866.7:c.759+20C>G | ENSP00000355180.3:n.759+20C>G | |
| ENST00000492851.1:n.411+20C>G | ||
| ENST00000612273.1:c.759+20C>G | ENSP00000483630.1:n.759+20C>G | |
| NM_001848.2:c.759+20C>G , LRG_475t1:c.759+20C>G | NP_001839.2:n.759+20C>G | |
| NM_001848.3:c.759+20C>G MANE Select | NP_001839.2:n.759+20C>G |