HGVS | Genome Assembly |
---|---|
NC_000007.14:g.151010911C>T , CM000669.2:g.151010911C>T | GRCh38 |
NC_000007.13:g.150707999C>T , CM000669.1:g.150707999C>T | GRCh37 |
NC_000007.12:g.150338932C>T | NCBI36 |
NG_011992.1:g.24853C>T | |
NG_030317.1:g.18589G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000297494.8:c.2909C>T MANE Select | ENSP00000297494.3:p.Pro970Leu | |
ENST00000297494.7:c.2909C>T | ENSP00000297494.3:p.Pro970Leu | |
ENST00000461406.5:c.2291C>T | ENSP00000417143.1:p.Pro764Leu | |
ENST00000468293.5:n.392C>T | ||
ENST00000475017.1:c.790C>T | ||
ENST00000477227.1:n.288C>T | ||
NM_000603.4:c.2909C>T | NP_000594.2:p.Pro970Leu | |
NM_000603.5:c.2909C>T MANE Select | NP_000594.2:p.Pro970Leu |