Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45998153G>C , CM000683.2:g.45998153G>C | GRCh38 |
| NC_000021.8:g.47418067G>C , CM000683.1:g.47418067G>C | GRCh37 |
| NC_000021.7:g.46242495G>C | NCBI36 |
| NG_008674.1:g.21405G>C , LRG_475:g.21405G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001848.3:c.1557G>C MANE Select | NP_001839.2:p.Glu519Asp |
| ENST00000361866.8:c.1557G>C MANE Select | ENSP00000355180.3:p.Glu519Asp |
| NM_001848.2:c.1557G>C , LRG_475t1:c.1557G>C | NP_001839.2:p.Glu519Asp |
| ENST00000361866.7:c.1557G>C | ENSP00000355180.3:p.Glu519Asp |
| ENST00000612273.1:c.1557G>C | ENSP00000483630.1:p.Glu519Asp |
| ENST00000683550.1:n.332G>C |