HGVS | Genome Assembly |
---|---|
NC_000023.11:g.29917484T>C , CM000685.2:g.29917484T>C | GRCh38 |
NC_000023.10:g.29935601T>C , CM000685.1:g.29935601T>C | GRCh37 |
NC_000023.9:g.29845522T>C | NCBI36 |
NG_008292.1:g.1334921T>C | |
NG_008292.2:g.1334921T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000378993.6:c.799T>C MANE Select | ENSP00000368278.1:p.Cys267Arg | |
ENST00000302196.5:c.22T>C | ENSP00000305200.5:p.Cys8Arg | |
ENST00000378993.5:c.799T>C | ENSP00000368278.1:p.Cys267Arg | |
NM_014271.3:c.799T>C | NP_055086.1:p.Cys267Arg | |
XM_005274441.1:c.799T>C | XP_005274498.1:p.Cys267Arg | |
XM_011545445.1:c.799T>C | XP_011543747.1:p.Cys267Arg | |
XM_017029240.1:c.799T>C | XP_016884729.1:p.Cys267Arg | |
XM_017029241.1:c.421T>C | XP_016884730.1:p.Cys141Arg | |
NM_014271.4:c.799T>C MANE Select | NP_055086.1:p.Cys267Arg |