ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.128634843T>C , CM000671.2:g.128634843T>C | GRCh38 |
| NC_000009.11:g.131397122T>C , CM000671.1:g.131397122T>C | GRCh37 |
| NC_000009.10:g.130436943T>C | NCBI36 |
| NG_027748.1:g.87286T>C | |
| NG_034056.1:g.27008A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372715.7:c.1060A>G MANE Select | ENSP00000361800.2:p.Thr354Ala | |
| ENST00000372715.6:c.1060A>G | ENSP00000361800.2:p.Thr354Ala | |
| ENST00000483181.1:n.653A>G | ||
| NM_052844.3:c.1060A>G | NP_443076.2:p.Thr354Ala | |
| XM_011519179.1:c.976A>G | XP_011517481.1:p.Thr326Ala | |
| XM_011519179.2:c.976A>G | XP_011517481.1:p.Thr326Ala | |
| NM_052844.4:c.1060A>G MANE Select | NP_443076.2:p.Thr354Ala |