HGVS | Genome Assembly |
---|---|
NC_000001.11:g.45500379T= , CM000663.2:g.45500379T= | GRCh38 |
NC_000001.10:g.45966051T= , CM000663.1:g.45966051T= | GRCh37 |
NC_000001.9:g.45738638T= | NCBI36 |
NG_013378.1:g.5196T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000401061.9:c.47T= MANE Select | ENSP00000383840.4:p.Leu16= | |
ENST00000401061.8:c.47T= | ENSP00000383840.4:p.Leu16= | |
ENST00000616135.1:c.-125T= | ENSP00000478859.1:n.-125T= | |
NM_015506.2:c.47T= | NP_056321.2:p.Leu16= | |
XM_005270724.3:c.47T= | XP_005270781.1:p.Leu16= | |
XM_011541204.1:c.-176T= | XP_011539506.1:n.-176T= | |
NM_001330540.1:c.-176T= | NP_001317469.1:n.-176T= | |
XM_005270724.5:c.47T= | XP_005270781.1:p.Leu16= | |
NM_015506.3:c.47T= MANE Select | NP_056321.2:p.Leu16= | |
NM_001330540.2:c.-176T= | NP_001317469.1:n.-176T= |