HGVS | Genome Assembly |
---|---|
NC_000001.11:g.1014300T>G , CM000663.2:g.1014300T>G | GRCh38 |
NC_000001.10:g.949680T>G , CM000663.1:g.949680T>G | GRCh37 |
NC_000001.9:g.939543T>G | NCBI36 |
NG_033033.1:g.5834T>G | |
NG_033033.2:g.18163T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000624697.4:c.296T>G | ENSP00000485643.1:p.Leu99Arg | |
ENST00000649529.1:c.320T>G MANE Select | ENSP00000496832.1:p.Leu107Arg | |
ENST00000379389.4:c.320T>G | ENSP00000368699.4:p.Leu107Arg | |
ENST00000624652.1:c.296T>G | ENSP00000485313.1:p.Leu99Arg | |
ENST00000624697.3:c.296T>G | ENSP00000485643.1:p.Leu99Arg | |
NM_005101.3:c.320T>G | NP_005092.1:p.Leu107Arg | |
NM_005101.4:c.320T>G MANE Select | NP_005092.1:p.Leu107Arg |