Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29227587G>T , CM000664.2:g.29227587G>T | GRCh38 |
| NC_000002.11:g.29450453G>T , CM000664.1:g.29450453G>T | GRCh37 |
| NC_000002.10:g.29303957G>T | NCBI36 |
| NG_009445.1:g.698980C>A , LRG_488:g.698980C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.2901C>A MANE Select | ENSP00000373700.3:p.Thr967= | |
| ENST00000431873.6:c.67C>A | ||
| ENST00000389048.7:c.2901C>A | ENSP00000373700.3:p.Thr967= | |
| ENST00000618119.4:c.1770C>A | ENSP00000482733.1:p.Thr590= | |
| NM_004304.4:c.2901C>A | NP_004295.2:p.Thr967= | |
| XM_024452778.1:c.54C>A | XP_024308546.1:p.Thr18= | |
| XR_001738688.2:n.3757C>A | ||
| NM_004304.5:c.2901C>A MANE Select | NP_004295.2:p.Thr967= |