Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44372408G= , CM000679.2:g.44372408G= | GRCh38 |
| NC_000017.10:g.42449776G= , CM000679.1:g.42449776G= | GRCh37 |
| NC_000017.9:g.39805302G= | NCBI36 |
| NG_008331.1:g.22098C= , LRG_479:g.22098C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262407.6:c.3076C= MANE Select | ENSP00000262407.5:p.Arg1026= | |
| ENST00000648408.1:c.2390C= | ||
| ENST00000262407.5:c.3076C= | ENSP00000262407.5:p.Arg1026= | |
| ENST00000587295.5:c.269C= | ||
| ENST00000588098.1:c.53C= | ||
| NM_000419.3:c.3076C= , LRG_479t1:c.3076C= | NP_000410.2:p.Arg1026= | |
| XM_011524749.1:c.2974C= | XP_011523051.1:p.Arg992= | |
| XM_011524750.1:c.2959C= | XP_011523052.1:p.Arg987= | |
| NM_000419.4:c.3076C= | NP_000410.2:p.Arg1026= | |
| NM_000419.5:c.3076C= MANE Select | NP_000410.2:p.Arg1026= |