HGVS | Genome Assembly |
---|---|
NC_000017.11:g.70175616C>G , CM000679.2:g.70175616C>G | GRCh38 |
NC_000017.10:g.68171757C>G , CM000679.1:g.68171757C>G | GRCh37 |
NC_000017.9:g.65683352C>G | NCBI36 |
NG_008798.1:g.11082C>G , LRG_328:g.11082C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000243457.4:c.577C>G MANE Select | ENSP00000243457.2:p.Leu193Val | |
ENST00000243457.3:c.577C>G | ENSP00000243457.2:p.Leu193Val | |
ENST00000535240.1:c.577C>G | ENSP00000441848.1:p.Leu193Val | |
NM_000891.2:c.577C>G , LRG_328t1:c.577C>G | NP_000882.1:p.Leu193Val | |
XM_011524779.1:c.577C>G | XP_011523081.1:p.Leu193Val | |
NM_000891.3:c.577C>G MANE Select | NP_000882.1:p.Leu193Val |