HGVS | Genome Assembly |
---|---|
NC_000017.11:g.44374697C= , CM000679.2:g.44374697C= | GRCh38 |
NC_000017.10:g.42452065C= , CM000679.1:g.42452065C= | GRCh37 |
NC_000017.9:g.39807591C= | NCBI36 |
NG_008331.1:g.19809G= , LRG_479:g.19809G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000262407.6:c.2905G= MANE Select | ENSP00000262407.5:p.Ala969= | |
ENST00000648408.1:c.2336G= | ||
ENST00000262407.5:c.2905G= | ENSP00000262407.5:p.Ala969= | |
ENST00000587295.5:c.253+1136G= | ||
ENST00000592462.5:n.2416G= | ||
NM_000419.3:c.2905G= , LRG_479t1:c.2905G= | NP_000410.2:p.Ala969= | |
XM_011524749.1:c.2842-227G= | XP_011523051.1:n.2842-227G= | |
XM_011524750.1:c.2905G= | XP_011523052.1:p.Ala969= | |
NM_000419.4:c.2905G= | NP_000410.2:p.Ala969= | |
NM_000419.5:c.2905G= MANE Select | NP_000410.2:p.Ala969= |