HGVS | Genome Assembly |
---|---|
NC_000023.11:g.29917582G>C , CM000685.2:g.29917582G>C | GRCh38 |
NC_000023.10:g.29935699G>C , CM000685.1:g.29935699G>C | GRCh37 |
NC_000023.9:g.29845620G>C | NCBI36 |
NG_008292.1:g.1335019G>C | |
NG_008292.2:g.1335019G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378993.6:c.897G>C MANE Select | ENSP00000368278.1:p.Trp299Cys | |
ENST00000302196.5:c.120G>C | ENSP00000305200.5:p.Trp40Cys | |
ENST00000378993.5:c.897G>C | ENSP00000368278.1:p.Trp299Cys | |
NM_014271.3:c.897G>C | NP_055086.1:p.Trp299Cys | |
XM_005274441.1:c.897G>C | XP_005274498.1:p.Trp299Cys | |
XM_011545445.1:c.897G>C | XP_011543747.1:p.Trp299Cys | |
XM_017029240.1:c.897G>C | XP_016884729.1:p.Trp299Cys | |
XM_017029241.1:c.519G>C | XP_016884730.1:p.Trp173Cys | |
NM_014271.4:c.897G>C MANE Select | NP_055086.1:p.Trp299Cys |