HGVS | Genome Assembly |
---|---|
NC_000004.12:g.119320715A>T , CM000666.2:g.119320715A>T | GRCh38 |
NC_000004.11:g.120241870A>T , CM000666.1:g.120241870A>T | GRCh37 |
NC_000004.10:g.120461318A>T | NCBI36 |
NG_011444.1:g.6447T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000274024.4:c.195T>A MANE Select | ENSP00000274024.3:p.Leu65= | |
ENST00000274024.3:c.195T>A | ENSP00000274024.3:p.Leu65= | |
NM_000134.3:c.195T>A | NP_000125.2:p.Leu65= | |
NM_000134.4:c.195T>A MANE Select | NP_000125.2:p.Leu65= |