Linked Data
ClinVar Variation Id:
141720
ClinVar RCV Id:
RCV000130341
dbSNP Id:
rs587781962
ExAC:
5:131924453 A / G
gnomAD v2:
5-131924453-A-G
gnomAD v4:
5-132588761-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132588761A>G , CM000667.2:g.132588761A>G | GRCh38 |
| NC_000005.9:g.131924453A>G , CM000667.1:g.131924453A>G | GRCh37 |
| NC_000005.8:g.131952352A>G | NCBI36 |
| NG_021151.1:g.36838A>G | |
| NG_021151.2:g.36785A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378823.8:c.1126A>G MANE Select | ENSP00000368100.4:p.Thr376Ala | |
| ENST00000638452.2:c.829A>G | ENSP00000492349.2:p.Thr277Ala | |
| ENST00000638504.1:n.812A>G | ||
| ENST00000638568.2:c.829A>G | ENSP00000491158.2:p.Thr277Ala | |
| ENST00000639899.1:n.1645A>G | ||
| ENST00000640655.2:c.829A>G | ENSP00000491596.2:p.Thr277Ala | |
| ENST00000651160.1:c.1126A>G | ENSP00000498829.1:p.Thr376Ala | |
| ENST00000651541.1:c.829A>G | ENSP00000498795.1:p.Thr277Ala | |
| ENST00000651658.1:n.1553A>G | ||
| ENST00000651723.1:c.*1209A>G | ENSP00000498237.1:n.*1209A>G | |
| ENST00000652016.1:c.1126A>G | ENSP00000498267.1:p.Thr376Ala | |
| ENST00000652485.1:c.1126A>G | ENSP00000498973.1:p.Thr376Ala | |
| ENST00000378823.7:c.1126A>G | ENSP00000368100.4:p.Thr376Ala | |
| ENST00000423956.5:c.1126A>G | ENSP00000390971.1:p.Thr376Ala | |
| ENST00000453394.5:c.1126A>G | ENSP00000400049.1:p.Thr376Ala | |
| ENST00000487596.1:n.692A>G | ||
| ENST00000533482.5:c.*752A>G | ENSP00000431225.1:n.*752A>G | |
| NM_005732.3:c.1126A>G | NP_005723.2:p.Thr376Ala | |
| NM_005732.4:c.1126A>G MANE Select | NP_005723.2:p.Thr376Ala |