Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46001375G= , CM000683.2:g.46001375G= | GRCh38 |
| NC_000021.8:g.47421289G= , CM000683.1:g.47421289G= | GRCh37 |
| NC_000021.7:g.46245717G= | NCBI36 |
| NG_008674.1:g.24627G= , LRG_475:g.24627G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463060.6:n.344G= | ||
| ENST00000612273.2:c.71G= | ||
| ENST00000682634.1:c.71G= | ||
| ENST00000361866.8:c.1945G= MANE Select | ENSP00000355180.3:p.Glu649= | |
| ENST00000361866.7:c.1945G= | ENSP00000355180.3:p.Glu649= | |
| ENST00000463060.5:n.344G= | ||
| ENST00000498614.5:n.179G= | ||
| ENST00000612273.1:c.1939G= | ENSP00000483630.1:p.Glu647= | |
| NM_001848.2:c.1945G= , LRG_475t1:c.1945G= | NP_001839.2:p.Glu649= | |
| NM_001848.3:c.1945G= MANE Select | NP_001839.2:p.Glu649= |