HGVS | Genome Assembly |
---|---|
NC_000005.10:g.128395184C>G , CM000667.2:g.128395184C>G | GRCh38 |
NC_000005.9:g.127730877C>G , CM000667.1:g.127730877C>G | GRCh37 |
NC_000005.8:g.127758776C>G | NCBI36 |
NG_008750.1:g.147859G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000703787.1:n.876G>C | ||
ENST00000262464.9:c.1169G>C MANE Select | ENSP00000262464.4:p.Cys390Ser | |
ENST00000262464.8:c.1169G>C | ENSP00000262464.4:p.Cys390Ser | |
ENST00000508053.5:c.1169G>C | ENSP00000424571.1:p.Cys390Ser | |
ENST00000508989.5:c.1070G>C | ENSP00000425596.1:p.Cys357Ser | |
ENST00000619499.4:c.1166G>C | ENSP00000482132.1:p.Cys389Ser | |
NM_001999.3:c.1169G>C | NP_001990.2:p.Cys390Ser | |
XM_017009228.2:c.1079-1816G>C | XP_016864717.1:n.1079-1816G>C | |
NM_001999.4:c.1169G>C MANE Select | NP_001990.2:p.Cys390Ser |