HGVS | Genome Assembly |
---|---|
NC_000012.12:g.12718009A= , CM000674.2:g.12718009A= | GRCh38 |
NC_000012.11:g.12870943A= , CM000674.1:g.12870943A= | GRCh37 |
NC_000012.10:g.12762210A= | NCBI36 |
NG_016341.1:g.5642A= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000614874.2:c.170A= | ENSP00000507272.1:p.Gln57= | |
ENST00000682620.1:n.1631-816A= | ||
ENST00000684771.1:n.585-816A= | ||
ENST00000228872.9:c.170A= MANE Select | ENSP00000228872.4:p.Gln57= | |
ENST00000228872.8:c.170A= | ENSP00000228872.4:p.Gln57= | |
ENST00000396340.1:c.170A= | ENSP00000379629.1:p.Gln57= | |
ENST00000442489.1:c.149A= | ENSP00000407597.1:p.Gln50= | |
ENST00000477087.1:n.155-816A= | ||
NM_004064.4:c.170A= | NP_004055.1:p.Gln57= | |
NM_004064.5:c.170A= MANE Select | NP_004055.1:p.Gln57= |