HGVS | Genome Assembly |
---|---|
NC_000005.10:g.128395173G>C , CM000667.2:g.128395173G>C | GRCh38 |
NC_000005.9:g.127730866G>C , CM000667.1:g.127730866G>C | GRCh37 |
NC_000005.8:g.127758765G>C | NCBI36 |
NG_008750.1:g.147870C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000703787.1:n.887C>G | ||
ENST00000262464.9:c.1180C>G MANE Select | ENSP00000262464.4:p.Arg394Gly | |
ENST00000262464.8:c.1180C>G | ENSP00000262464.4:p.Arg394Gly | |
ENST00000508053.5:c.1180C>G | ENSP00000424571.1:p.Arg394Gly | |
ENST00000508989.5:c.1081C>G | ENSP00000425596.1:p.Arg361Gly | |
ENST00000619499.4:c.1177C>G | ENSP00000482132.1:p.Arg393Gly | |
NM_001999.3:c.1180C>G | NP_001990.2:p.Arg394Gly | |
XM_017009228.2:c.1079-1805C>G | XP_016864717.1:n.1079-1805C>G | |
NM_001999.4:c.1180C>G MANE Select | NP_001990.2:p.Arg394Gly |