Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44372411T= , CM000679.2:g.44372411T= | GRCh38 |
| NC_000017.10:g.42449779T= , CM000679.1:g.42449779T= | GRCh37 |
| NC_000017.9:g.39805305T= | NCBI36 |
| NG_008331.1:g.22095A= , LRG_479:g.22095A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262407.6:c.3073A= MANE Select | ENSP00000262407.5:p.Lys1025= | |
| ENST00000648408.1:c.2387A= | ||
| ENST00000262407.5:c.3073A= | ENSP00000262407.5:p.Lys1025= | |
| ENST00000587295.5:c.266A= | ||
| ENST00000588098.1:c.50A= | ||
| NM_000419.3:c.3073A= , LRG_479t1:c.3073A= | NP_000410.2:p.Lys1025= | |
| XM_011524749.1:c.2971A= | XP_011523051.1:p.Lys991= | |
| XM_011524750.1:c.2956A= | XP_011523052.1:p.Lys986= | |
| NM_000419.4:c.3073A= | NP_000410.2:p.Lys1025= | |
| NM_000419.5:c.3073A= MANE Select | NP_000410.2:p.Lys1025= |