Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45997757G= , CM000683.2:g.45997757G= | GRCh38 |
| NC_000021.8:g.47417671G= , CM000683.1:g.47417671G= | GRCh37 |
| NC_000021.7:g.46242099G= | NCBI36 |
| NG_008674.1:g.21009G= , LRG_475:g.21009G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683550.1:n.294G= | ||
| ENST00000361866.8:c.1519G= MANE Select | ENSP00000355180.3:p.Glu507= | |
| ENST00000361866.7:c.1519G= | ENSP00000355180.3:p.Glu507= | |
| ENST00000612273.1:c.1519G= | ENSP00000483630.1:p.Glu507= | |
| NM_001848.2:c.1519G= , LRG_475t1:c.1519G= | NP_001839.2:p.Glu507= | |
| NM_001848.3:c.1519G= MANE Select | NP_001839.2:p.Glu507= |