HGVS | Genome Assembly |
---|---|
NC_000007.14:g.151010912C>A , CM000669.2:g.151010912C>A | GRCh38 |
NC_000007.13:g.150708000C>A , CM000669.1:g.150708000C>A | GRCh37 |
NC_000007.12:g.150338933C>A | NCBI36 |
NG_011992.1:g.24854C>A | |
NG_030317.1:g.18588G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000297494.8:c.2910C>A MANE Select | ENSP00000297494.3:p.Pro970= | |
ENST00000297494.7:c.2910C>A | ENSP00000297494.3:p.Pro970= | |
ENST00000461406.5:c.2292C>A | ENSP00000417143.1:p.Pro764= | |
ENST00000468293.5:n.393C>A | ||
ENST00000475017.1:c.791C>A | ||
ENST00000477227.1:n.289C>A | ||
NM_000603.4:c.2910C>A | NP_000594.2:p.Pro970= | |
NM_000603.5:c.2910C>A MANE Select | NP_000594.2:p.Pro970= |