HGVS | Genome Assembly |
---|---|
NC_000017.11:g.44372366A= , CM000679.2:g.44372366A= | GRCh38 |
NC_000017.10:g.42449734A= , CM000679.1:g.42449734A= | GRCh37 |
NC_000017.9:g.39805260A= | NCBI36 |
NG_008331.1:g.22140T= , LRG_479:g.22140T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000262407.6:c.3118T= MANE Select | ENSP00000262407.5:p.Ter1040= | |
ENST00000648408.1:c.2432T= | ||
ENST00000262407.5:c.3118T= | ENSP00000262407.5:p.Ter1040= | |
ENST00000587295.5:c.311T= | ||
ENST00000588098.1:c.95T= | ||
NM_000419.3:c.3118T= , LRG_479t1:c.3118T= | NP_000410.2:p.Ter1040= | |
XM_011524749.1:c.3016T= | XP_011523051.1:p.Ter1006= | |
XM_011524750.1:c.3001T= | XP_011523052.1:p.Ter1001= | |
NM_000419.4:c.3118T= | NP_000410.2:p.Ter1040= | |
NM_000419.5:c.3118T= MANE Select | NP_000410.2:p.Ter1040= |