HGVS | Genome Assembly |
---|---|
NC_000023.11:g.141895495C>T , CM000685.2:g.141895495C>T | GRCh38 |
NC_000023.10:g.140983281C>T , CM000685.1:g.140983281C>T | GRCh37 |
NC_000023.9:g.140810947C>T | NCBI36 |
NG_013272.1:g.62180C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000298296.1:c.1059C>T MANE Select | ENSP00000298296.1:p.Gly353= | |
ENST00000443323.2:c.-118-936C>T | ENSP00000438254.1:n.-118-936C>T | |
ENST00000483584.5:n.288+88C>T | ||
ENST00000544766.5:c.-240+88C>T | ENSP00000440444.1:n.-240+88C>T | |
NM_138702.1:c.1059C>T MANE Select | NP_619647.1:p.Gly353= | |
NM_177456.2:c.-240+88C>T | NP_803251.1:n.-240+88C>T | |
XM_011531267.1:c.-163+88C>T | XP_011529569.1:n.-163+88C>T | |
XM_011531267.3:c.-163+88C>T | XP_011529569.1:n.-163+88C>T | |
XM_017029265.2:c.-240+88C>T | XP_016884754.1:n.-240+88C>T |