HGVS | Genome Assembly |
---|---|
NC_000023.11:g.141895486A>C , CM000685.2:g.141895486A>C | GRCh38 |
NC_000023.10:g.140983272A>C , CM000685.1:g.140983272A>C | GRCh37 |
NC_000023.9:g.140810938A>C | NCBI36 |
NG_013272.1:g.62171A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000298296.1:c.1050A>C MANE Select | ENSP00000298296.1:p.Gly350= | |
ENST00000443323.2:c.-118-945A>C | ENSP00000438254.1:n.-118-945A>C | |
ENST00000483584.5:n.288+79A>C | ||
ENST00000544766.5:c.-240+79A>C | ENSP00000440444.1:n.-240+79A>C | |
NM_138702.1:c.1050A>C MANE Select | NP_619647.1:p.Gly350= | |
NM_177456.2:c.-240+79A>C | NP_803251.1:n.-240+79A>C | |
XM_011531267.1:c.-163+79A>C | XP_011529569.1:n.-163+79A>C | |
XM_011531267.3:c.-163+79A>C | XP_011529569.1:n.-163+79A>C | |
XM_017029265.2:c.-240+79A>C | XP_016884754.1:n.-240+79A>C |