HGVS | Genome Assembly |
---|---|
NC_000017.11:g.4945899G>T , CM000679.2:g.4945899G>T | GRCh38 |
NC_000017.10:g.4849194G>T , CM000679.1:g.4849194G>T | GRCh37 |
NC_000017.9:g.4789939G>T | NCBI36 |
NG_012063.2:g.4809G>T | |
NG_032945.1:g.8188C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000225655.6:c.*1C>A MANE Select | ENSP00000225655.5:n.*1C>A | |
ENST00000225655.5:c.*1C>A | ENSP00000225655.5:n.*1C>A | |
ENST00000574872.1:c.*1C>A | ENSP00000465019.1:n.*1C>A | |
NM_005022.3:c.*1C>A | NP_005013.1:n.*1C>A | |
XM_017024761.1:c.*508C>A | XP_016880250.1:n.*508C>A | |
NM_001375991.1:c.*508C>A | NP_001362920.1:n.*508C>A | |
NM_005022.4:c.*1C>A MANE Select | NP_005013.1:n.*1C>A |