HGVS | Genome Assembly |
---|---|
NC_000010.11:g.94780656C>G , CM000672.2:g.94780656C>G | GRCh38 |
NC_000010.10:g.96540413C>G , CM000672.1:g.96540413C>G | GRCh37 |
NC_000010.9:g.96530403C>G | NCBI36 |
NG_008384.2:g.22951C>G | |
NG_008384.3:g.22976C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000371321.9:c.639C>G MANE Select | ENSP00000360372.3:p.Ile213Met | |
ENST00000645461.1:n.1692C>G | ||
ENST00000371321.7:c.639C>G | ENSP00000360372.3:p.Ile213Met | |
ENST00000464755.1:c.1402C>G | ENSP00000483243.1:n.1402C>G | |
NM_000769.2:c.639C>G | NP_000760.1:p.Ile213Met | |
NM_000769.4:c.639C>G MANE Select | NP_000760.1:p.Ile213Met |