HGVS | Genome Assembly |
---|---|
NC_000007.14:g.94423071C>G , CM000669.2:g.94423071C>G | GRCh38 |
NC_000007.13:g.94052383C>G , CM000669.1:g.94052383C>G | GRCh37 |
NC_000007.12:g.93890319C>G | NCBI36 |
NG_007405.1:g.33511C>G , LRG_2:g.33511C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000297268.11:c.2518C>G MANE Select | ENSP00000297268.6:p.Pro840Ala | |
ENST00000297268.10:c.2518C>G | ENSP00000297268.6:p.Pro840Ala | |
ENST00000481570.5:n.601C>G | ||
ENST00000497316.5:n.915C>G | ||
ENST00000620463.1:c.2512C>G | ENSP00000477719.1:p.Pro838Ala | |
NM_000089.3:c.2518C>G , LRG_2t1:c.2518C>G | NP_000080.2:p.Pro840Ala | |
NM_000089.4:c.2518C>G MANE Select | NP_000080.2:p.Pro840Ala |