HGVS | Genome Assembly |
---|---|
NC_000001.11:g.1014278C>T , CM000663.2:g.1014278C>T | GRCh38 |
NC_000001.10:g.949658C>T , CM000663.1:g.949658C>T | GRCh37 |
NC_000001.9:g.939521C>T | NCBI36 |
NG_033033.1:g.5812C>T | |
NG_033033.2:g.18141C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000624697.4:c.274C>T | ENSP00000485643.1:p.Leu92= | |
ENST00000649529.1:c.298C>T MANE Select | ENSP00000496832.1:p.Leu100= | |
ENST00000379389.4:c.298C>T | ENSP00000368699.4:p.Leu100= | |
ENST00000624652.1:c.274C>T | ENSP00000485313.1:p.Leu92= | |
ENST00000624697.3:c.274C>T | ENSP00000485643.1:p.Leu92= | |
NM_005101.3:c.298C>T | NP_005092.1:p.Leu100= | |
NM_005101.4:c.298C>T MANE Select | NP_005092.1:p.Leu100= |