HGVS | Genome Assembly |
---|---|
NC_000023.11:g.141895489T>G , CM000685.2:g.141895489T>G | GRCh38 |
NC_000023.10:g.140983275T>G , CM000685.1:g.140983275T>G | GRCh37 |
NC_000023.9:g.140810941T>G | NCBI36 |
NG_013272.1:g.62174T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000298296.1:c.1053T>G MANE Select | ENSP00000298296.1:p.Leu351= | |
ENST00000443323.2:c.-118-942T>G | ENSP00000438254.1:n.-118-942T>G | |
ENST00000483584.5:n.288+82T>G | ||
ENST00000544766.5:c.-240+82T>G | ENSP00000440444.1:n.-240+82T>G | |
NM_138702.1:c.1053T>G MANE Select | NP_619647.1:p.Leu351= | |
NM_177456.2:c.-240+82T>G | NP_803251.1:n.-240+82T>G | |
XM_011531267.1:c.-163+82T>G | XP_011529569.1:n.-163+82T>G | |
XM_011531267.3:c.-163+82T>G | XP_011529569.1:n.-163+82T>G | |
XM_017029265.2:c.-240+82T>G | XP_016884754.1:n.-240+82T>G |