Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46001986G>A , CM000683.2:g.46001986G>A | GRCh38 |
| NC_000021.8:g.47421900G>A , CM000683.1:g.47421900G>A | GRCh37 |
| NC_000021.7:g.46246328G>A | NCBI36 |
| NG_008674.1:g.25238G>A , LRG_475:g.25238G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001848.3:c.1982G>A MANE Select | NP_001839.2:p.Gly661Asp |
| ENST00000361866.8:c.1982G>A MANE Select | ENSP00000355180.3:p.Gly661Asp |
| NM_001848.2:c.1982G>A , LRG_475t1:c.1982G>A | NP_001839.2:p.Gly661Asp |
| ENST00000361866.7:c.1982G>A | ENSP00000355180.3:p.Gly661Asp |
| ENST00000463060.5:n.381G>A | |
| ENST00000463060.6:n.381G>A | |
| ENST00000498614.5:n.216G>A | |
| ENST00000612273.1:c.1976G>A | ENSP00000483630.1:p.Gly659Asp |
| ENST00000612273.2:c.108G>A | |
| ENST00000682634.1:c.108G>A |