Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94418485G>A , CM000663.2:g.94418485G>A | GRCh38 |
| NC_000001.10:g.94884041G>A , CM000663.1:g.94884041G>A | GRCh37 |
| NC_000001.9:g.94656629G>A | NCBI36 |
| NG_008865.1:g.5109G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370214.9:c.7G>A MANE Select | ENSP00000359233.4:p.Ala3Thr | |
| ENST00000647998.2:c.7G>A | ENSP00000497921.2:p.Ala3Thr | |
| ENST00000315713.5:c.7G>A | ENSP00000326880.5:p.Ala3Thr | |
| ENST00000370214.8:c.7G>A | ENSP00000359233.4:p.Ala3Thr | |
| NM_001122674.1:c.7G>A | NP_001116146.1:p.Ala3Thr | |
| NM_002858.3:c.7G>A | NP_002849.1:p.Ala3Thr | |
| XM_006710802.2:c.7G>A | XP_006710865.2:p.Ala3Thr | |
| NM_002858.4:c.7G>A MANE Select | NP_002849.1:p.Ala3Thr | |
| NM_001122674.2:c.7G>A | NP_001116146.1:p.Ala3Thr |