HGVS | Genome Assembly |
---|---|
NC_000008.11:g.144416001G>T , CM000670.2:g.144416001G>T | GRCh38 |
NC_000008.10:g.145641385G>T , CM000670.1:g.145641385G>T | GRCh37 |
NC_000008.9:g.145612193G>T | NCBI36 |
NG_012234.2:g.5890C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000301305.8:c.283C>A MANE Select | ENSP00000301305.4:p.Arg95Ser | |
ENST00000276833.9:c.208C>A | ENSP00000276833.5:p.Arg70Ser | |
ENST00000301305.7:c.283C>A | ENSP00000301305.3:p.Arg95Ser | |
ENST00000526658.1:c.193-582C>A | ENSP00000434512.1:n.193-582C>A | |
NM_017767.2:c.208C>A | NP_060237.2:p.Arg70Ser | |
NM_130849.3:c.283C>A | NP_570901.2:p.Arg95Ser | |
XM_006716599.1:c.283C>A | XP_006716662.1:p.Arg95Ser | |
XM_011517153.1:c.193-582C>A | XP_011515455.1:n.193-582C>A | |
XM_024447188.1:c.193-582C>A | XP_024302956.1:n.193-582C>A | |
XM_024447189.1:c.193-582C>A | XP_024302957.1:n.193-582C>A | |
NM_001374839.1:c.193-582C>A | NP_001361768.1:n.193-582C>A | |
NM_017767.3:c.208C>A | NP_060237.3:p.Arg70Ser | |
NM_130849.4:c.283C>A MANE Select | NP_570901.3:p.Arg95Ser |