Linked Data
ClinVar Variation Id:
134722
dbSNP Id:
rs587778480
ExAC:
12:49424765 C / T
gnomAD v2:
12-49424765-C-T
gnomAD v3:
12-49030982-C-T
gnomAD v4:
12-49030982-C-T
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49030982C>T , CM000674.2:g.49030982C>T | GRCh38 |
| NC_000012.11:g.49424765C>T , CM000674.1:g.49424765C>T | GRCh37 |
| NC_000012.10:g.47711032C>T | NCBI36 |
| NG_027827.1:g.29343G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000552391.2:n.282G>A | ||
| ENST00000683543.2:c.13582G>A | ENSP00000506726.1:p.Ala4528Thr | |
| ENST00000685166.1:c.13591G>A | ENSP00000509386.1:p.Ala4531Thr | |
| ENST00000685982.1:c.138+193G>A | ENSP00000508613.1:n.138+193G>A | |
| ENST00000691986.1:c.138+193G>A | ENSP00000509196.1:n.138+193G>A | |
| ENST00000692637.1:c.13579G>A | ENSP00000509666.1:p.Ala4527Thr | |
| ENST00000692973.1:c.183G>A | ENSP00000508893.1:n.183G>A | |
| ENST00000301067.12:c.13582G>A MANE Select | ENSP00000301067.7:p.Ala4528Thr | |
| ENST00000301067.11:c.13582G>A | ENSP00000301067.7:p.Ala4528Thr | |
| ENST00000552391.1:n.282G>A | ||
| NM_003482.3:c.13582G>A | NP_003473.3:p.Ala4528Thr | |
| XM_005269162.3:c.13582G>A | XP_005269219.1:p.Ala4528Thr | |
| XM_006719614.2:c.13591G>A | XP_006719677.1:p.Ala4531Thr | |
| XM_006719616.2:c.13579G>A | XP_006719679.1:p.Ala4527Thr | |
| XM_011538770.1:c.13591G>A | XP_011537072.1:p.Ala4531Thr | |
| XM_011538771.1:c.13588G>A | XP_011537073.1:p.Ala4530Thr | |
| XM_011538772.1:c.13582G>A | XP_011537074.1:p.Ala4528Thr | |
| XM_011538773.1:c.13579G>A | XP_011537075.1:p.Ala4527Thr | |
| XM_011538774.1:c.13570G>A | XP_011537076.1:p.Ala4524Thr | |
| XM_011538775.1:c.13591G>A | XP_011537077.1:p.Ala4531Thr | |
| XM_011538776.1:c.13498G>A | XP_011537078.1:p.Ala4500Thr | |
| XR_944740.1:n.15911G>A | ||
| XM_005269162.4:c.13582G>A | XP_005269219.1:p.Ala4528Thr | |
| XM_006719614.4:c.13591G>A | XP_006719677.1:p.Ala4531Thr | |
| XM_006719616.3:c.13579G>A | XP_006719679.1:p.Ala4527Thr | |
| XM_011538770.2:c.13591G>A | XP_011537072.1:p.Ala4531Thr | |
| XM_011538771.2:c.13588G>A | XP_011537073.1:p.Ala4530Thr | |
| XM_011538772.2:c.13582G>A | XP_011537074.1:p.Ala4528Thr | |
| XM_011538773.2:c.13579G>A | XP_011537075.1:p.Ala4527Thr | |
| XM_011538774.2:c.13570G>A | XP_011537076.1:p.Ala4524Thr | |
| XM_011538776.2:c.13498G>A | XP_011537078.1:p.Ala4500Thr | |
| XR_001748874.1:n.14900G>A | ||
| NM_003482.4:c.13582G>A MANE Select | NP_003473.3:p.Ala4528Thr |