Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29920653C>T , CM000664.2:g.29920653C>T | GRCh38 |
| NC_000002.11:g.30143519C>T , CM000664.1:g.30143519C>T | GRCh37 |
| NC_000002.10:g.29997023C>T | NCBI36 |
| NG_009445.1:g.5914G>A , LRG_488:g.5914G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.7G>A MANE Select | ENSP00000373700.3:p.Ala3Thr | |
| ENST00000389048.7:c.7G>A | ENSP00000373700.3:p.Ala3Thr | |
| NM_004304.4:c.7G>A | NP_004295.2:p.Ala3Thr | |
| XR_001738688.2:n.937G>A | ||
| NM_004304.5:c.7G>A MANE Select | NP_004295.2:p.Ala3Thr |