HGVS | Genome Assembly |
---|---|
NC_000001.11:g.170664755T>C , CM000663.2:g.170664755T>C | GRCh38 |
NC_000001.10:g.170633896T>C , CM000663.1:g.170633896T>C | GRCh37 |
NC_000001.9:g.168900520T>C | NCBI36 |
NG_031856.2:g.5584T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000239461.11:c.241+296T>C MANE Select | ENSP00000239461.6:n.241+296T>C | |
ENST00000239461.10:c.241+296T>C | ENSP00000239461.6:n.241+296T>C | |
ENST00000367760.7:c.241+296T>C | ENSP00000356734.3:n.241+296T>C | |
ENST00000497230.2:c.241+296T>C | ENSP00000450762.1:n.241+296T>C | |
ENST00000553786.1:n.351+296T>C | ||
NM_006902.4:c.241+296T>C | NP_008833.1:n.241+296T>C | |
NM_022716.3:c.241+296T>C | NP_073207.1:n.241+296T>C | |
XM_006711388.2:c.100+296T>C | XP_006711451.1:n.100+296T>C | |
XM_006711388.3:c.100+296T>C | XP_006711451.1:n.100+296T>C | |
NM_022716.4:c.241+296T>C MANE Select | NP_073207.1:n.241+296T>C | |
NM_006902.5:c.241+296T>C | NP_008833.1:n.241+296T>C |