HGVS | Genome Assembly |
---|---|
NC_000023.11:g.22033073T>A , CM000685.2:g.22033073T>A | GRCh38 |
NC_000023.10:g.22051191T>A , CM000685.1:g.22051191T>A | GRCh37 |
NC_000023.9:g.21961112T>A | NCBI36 |
NG_007563.2:g.5271T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000475778.2:n.494T>A | ||
ENST00000683214.1:n.494T>A | ||
ENST00000684143.1:c.68T>A | ENSP00000508264.1:p.Leu23Gln | |
ENST00000379374.5:c.68T>A MANE Select | ENSP00000368682.4:p.Leu23Gln | |
ENST00000379374.4:c.68T>A | ENSP00000368682.4:p.Leu23Gln | |
NM_000444.5:c.68T>A | NP_000435.3:p.Leu23Gln | |
NM_001282754.1:c.68T>A | NP_001269683.1:p.Leu23Gln | |
XM_011545535.1:c.68T>A | XP_011543837.1:p.Leu23Gln | |
XR_001755695.1:n.747T>A | ||
NM_000444.6:c.68T>A MANE Select | NP_000435.3:p.Leu23Gln | |
NM_001282754.2:c.68T>A | NP_001269683.1:p.Leu23Gln |