HGVS | Genome Assembly |
---|---|
NC_000005.10:g.128305007C>G , CM000667.2:g.128305007C>G | GRCh38 |
NC_000005.9:g.127640699C>G , CM000667.1:g.127640699C>G | GRCh37 |
NC_000005.8:g.127668598C>G | NCBI36 |
NG_008750.1:g.238037G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000703783.1:n.2534G>C | ||
ENST00000703785.1:n.2453G>C | ||
ENST00000262464.9:c.5750G>C MANE Select | ENSP00000262464.4:p.Cys1917Ser | |
ENST00000262464.8:c.5750G>C | ENSP00000262464.4:p.Cys1917Ser | |
ENST00000508053.5:c.5750G>C | ENSP00000424571.1:p.Cys1917Ser | |
ENST00000619499.4:c.5747G>C | ENSP00000482132.1:p.Cys1916Ser | |
NM_001999.3:c.5750G>C | NP_001990.2:p.Cys1917Ser | |
XM_017009228.2:c.5597G>C | XP_016864717.1:p.Cys1866Ser | |
NM_001999.4:c.5750G>C MANE Select | NP_001990.2:p.Cys1917Ser |