HGVS | Genome Assembly |
---|---|
NC_000017.11:g.4946084G>T , CM000679.2:g.4946084G>T | GRCh38 |
NC_000017.10:g.4849379G>T , CM000679.1:g.4849379G>T | GRCh37 |
NC_000017.9:g.4790124G>T | NCBI36 |
NG_012063.2:g.4994G>T | |
NG_032945.1:g.8003C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000225655.6:c.326-87C>A MANE Select | ENSP00000225655.5:n.326-87C>A | |
ENST00000225655.5:c.326-87C>A | ENSP00000225655.5:n.326-87C>A | |
ENST00000574872.1:c.218-87C>A | ENSP00000465019.1:n.218-87C>A | |
NM_005022.3:c.326-87C>A | NP_005013.1:n.326-87C>A | |
XM_017024761.1:c.*323C>A | XP_016880250.1:n.*323C>A | |
NM_001375991.1:c.*323C>A | NP_001362920.1:n.*323C>A | |
NM_005022.4:c.326-87C>A MANE Select | NP_005013.1:n.326-87C>A |