HGVS | Genome Assembly |
---|---|
NC_000007.14:g.151010910C>G , CM000669.2:g.151010910C>G | GRCh38 |
NC_000007.13:g.150707998C>G , CM000669.1:g.150707998C>G | GRCh37 |
NC_000007.12:g.150338931C>G | NCBI36 |
NG_011992.1:g.24852C>G | |
NG_030317.1:g.18590G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000297494.8:c.2908C>G MANE Select | ENSP00000297494.3:p.Pro970Ala | |
ENST00000297494.7:c.2908C>G | ENSP00000297494.3:p.Pro970Ala | |
ENST00000461406.5:c.2290C>G | ENSP00000417143.1:p.Pro764Ala | |
ENST00000468293.5:n.391C>G | ||
ENST00000475017.1:c.789C>G | ||
ENST00000477227.1:n.287C>G | ||
NM_000603.4:c.2908C>G | NP_000594.2:p.Pro970Ala | |
NM_000603.5:c.2908C>G MANE Select | NP_000594.2:p.Pro970Ala |