HGVS | Genome Assembly |
---|---|
NC_000019.10:g.2251438C= , CM000681.2:g.2251438C= | GRCh38 |
NC_000019.9:g.2251437C= , CM000681.1:g.2251437C= | GRCh37 |
NC_000019.8:g.2202437C= | NCBI36 |
NG_012190.1:g.7325C= | |
NG_032853.1:g.9986G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000221496.5:c.1164C= MANE Select | ENSP00000221496.2:p.Ala388= | |
ENST00000221496.4:c.1164C= | ENSP00000221496.2:p.Ala388= | |
ENST00000589313.2:n.1517C= | ||
NM_000479.3:c.1164C= | NP_000470.2:p.Ala388= | |
NM_000479.4:c.1164C= | NP_000470.2:p.Ala388= | |
NM_000479.5:c.1164C= MANE Select | NP_000470.3:p.Ala388= |