HGVS | Genome Assembly |
---|---|
NC_000023.11:g.29917479T>A , CM000685.2:g.29917479T>A | GRCh38 |
NC_000023.10:g.29935596T>A , CM000685.1:g.29935596T>A | GRCh37 |
NC_000023.9:g.29845517T>A | NCBI36 |
NG_008292.1:g.1334916T>A | |
NG_008292.2:g.1334916T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000378993.6:c.794T>A MANE Select | ENSP00000368278.1:p.Leu265Gln | |
ENST00000302196.5:c.17T>A | ENSP00000305200.5:p.Leu6Gln | |
ENST00000378993.5:c.794T>A | ENSP00000368278.1:p.Leu265Gln | |
NM_014271.3:c.794T>A | NP_055086.1:p.Leu265Gln | |
XM_005274441.1:c.794T>A | XP_005274498.1:p.Leu265Gln | |
XM_011545445.1:c.794T>A | XP_011543747.1:p.Leu265Gln | |
XM_017029240.1:c.794T>A | XP_016884729.1:p.Leu265Gln | |
XM_017029241.1:c.416T>A | XP_016884730.1:p.Leu139Gln | |
NM_014271.4:c.794T>A MANE Select | NP_055086.1:p.Leu265Gln |