HGVS | Genome Assembly |
---|---|
NC_000021.9:g.45984065C>G , CM000683.2:g.45984065C>G | GRCh38 |
NC_000021.8:g.47403979C>G , CM000683.1:g.47403979C>G | GRCh37 |
NC_000021.7:g.46228407C>G | NCBI36 |
NG_008674.1:g.7317C>G , LRG_475:g.7317C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000361866.8:c.228-204C>G MANE Select | ENSP00000355180.3:n.228-204C>G | |
ENST00000361866.7:c.228-204C>G | ENSP00000355180.3:n.228-204C>G | |
ENST00000612273.1:c.228-204C>G | ENSP00000483630.1:n.228-204C>G | |
NM_001848.2:c.228-204C>G , LRG_475t1:c.228-204C>G | NP_001839.2:n.228-204C>G | |
NM_001848.3:c.228-204C>G MANE Select | NP_001839.2:n.228-204C>G |