Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29296952C>T , CM000664.2:g.29296952C>T | GRCh38 |
| NC_000002.11:g.29519818C>T , CM000664.1:g.29519818C>T | GRCh37 |
| NC_000002.10:g.29373322C>T | NCBI36 |
| NG_009445.1:g.629615G>A , LRG_488:g.629615G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004304.5:c.1753G>A MANE Select | NP_004295.2:p.Ala585Thr |
| ENST00000389048.8:c.1753G>A MANE Select | ENSP00000373700.3:p.Ala585Thr |
| NM_004304.4:c.1753G>A | NP_004295.2:p.Ala585Thr |
| ENST00000389048.7:c.1753G>A | ENSP00000373700.3:p.Ala585Thr |
| ENST00000498037.1:n.308G>A | |
| ENST00000618119.4:c.622G>A | ENSP00000482733.1:p.Ala208Thr |
| XR_001738688.2:n.2683G>A |