HGVS | Genome Assembly |
---|---|
NC_000021.9:g.43417097T>A , CM000683.2:g.43417097T>A | GRCh38 |
NG_052009.1:g.15036A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000270162.8:c.1997A>T MANE Select | ENSP00000270162.6:p.His666Leu | |
ENST00000270162.6:c.1997A>T | ENSP00000270162.6:p.His666Leu | |
NM_173354.3:c.1997A>T | NP_775490.2:p.His666Leu | |
XM_011529474.1:c.1850A>T | XP_011527776.1:p.His617Leu | |
NM_173354.4:c.1997A>T | NP_775490.2:p.His666Leu | |
XM_011529474.2:c.1850A>T | XP_011527776.1:p.His617Leu | |
NM_173354.5:c.1997A>T MANE Select | NP_775490.2:p.His666Leu |