Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55057454G= , CM000663.2:g.55057454G= | GRCh38 |
| NC_000001.10:g.55523127G= , CM000663.1:g.55523127G= | GRCh37 |
| NC_000001.9:g.55295715G= | NCBI36 |
| NG_009061.1:g.22908G= , LRG_275:g.22908G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_174936.4:c.1120G= MANE Select | NP_777596.2:p.Asp374= |
| ENST00000302118.5:c.1120G= MANE Select | ENSP00000303208.5:p.Asp374= |
| NM_174936.3:c.1120G= , LRG_275t1:c.1120G= | NP_777596.2:p.Asp374= |
| NR_110451.1:n.779G= | |
| NR_110451.2:n.779G= | |
| ENST00000490692.1:n.1844G= | |
| ENST00000673903.1:c.745G= | ENSP00000501257.1:p.Asp249= |
| ENST00000673913.2:c.1120G= | ENSP00000501161.2:p.Asp374= |
| ENST00000710286.1:c.1477G= | ENSP00000518176.1:p.Asp493= |
| XM_011541193.1:c.241G= | XP_011539495.1:p.Asp81= |