HGVS | Genome Assembly |
---|---|
NC_000002.12:g.38075151G>C , CM000664.2:g.38075151G>C | GRCh38 |
NC_000002.11:g.38302294G>C , CM000664.1:g.38302294G>C | GRCh37 |
NC_000002.10:g.38155798G>C | NCBI36 |
NG_008386.2:g.5951C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000490576.2:c.238C>G | ENSP00000478839.2:p.Arg80Gly | |
ENST00000610745.5:c.238C>G MANE Select | ENSP00000478561.1:p.Arg80Gly | |
ENST00000490576.1:c.238C>G | ENSP00000478839.1:p.Arg80Gly | |
ENST00000494864.1:c.-70-3841C>G | ENSP00000479876.1:n.-70-3841C>G | |
ENST00000610745.4:c.238C>G | ENSP00000478561.1:p.Arg80Gly | |
ENST00000613082.1:n.375+629C>G | ||
ENST00000614273.1:c.238C>G | ENSP00000483678.1:p.Arg80Gly | |
NM_000104.3:c.238C>G | NP_000095.2:p.Arg80Gly | |
NM_000104.4:c.238C>G MANE Select | NP_000095.2:p.Arg80Gly |