Linked Data
ClinVar Variation Id:
142528
dbSNP Id:
rs587782523
ExAC:
5:131925430 T / A
gnomAD v2:
5-131925430-T-A
gnomAD v3:
5-132589738-T-A
gnomAD v4:
5-132589738-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132589738T>A , CM000667.2:g.132589738T>A | GRCh38 |
| NC_000005.9:g.131925430T>A , CM000667.1:g.131925430T>A | GRCh37 |
| NC_000005.8:g.131953329T>A | NCBI36 |
| NG_021151.1:g.37815T>A | |
| NG_021151.2:g.37762T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378823.8:c.1353T>A MANE Select | ENSP00000368100.4:p.Ser451Arg | |
| ENST00000638452.2:c.1056T>A | ENSP00000492349.2:p.Ser352Arg | |
| ENST00000638504.1:n.1039T>A | ||
| ENST00000638568.2:c.1056T>A | ENSP00000491158.2:p.Ser352Arg | |
| ENST00000639899.1:n.1872T>A | ||
| ENST00000640655.2:c.1056T>A | ENSP00000491596.2:p.Ser352Arg | |
| ENST00000651160.1:c.1353T>A | ENSP00000498829.1:p.Ser451Arg | |
| ENST00000651541.1:c.1056T>A | ENSP00000498795.1:p.Ser352Arg | |
| ENST00000651658.1:n.1780T>A | ||
| ENST00000651723.1:c.*1436T>A | ENSP00000498237.1:n.*1436T>A | |
| ENST00000652016.1:c.1353T>A | ENSP00000498267.1:p.Ser451Arg | |
| ENST00000652485.1:c.1353T>A | ENSP00000498973.1:p.Ser451Arg | |
| ENST00000378823.7:c.1353T>A | ENSP00000368100.4:p.Ser451Arg | |
| ENST00000423956.5:c.1353T>A | ENSP00000390971.1:p.Ser451Arg | |
| ENST00000453394.5:c.1353T>A | ENSP00000400049.1:p.Ser451Arg | |
| ENST00000533482.5:c.*979T>A | ENSP00000431225.1:n.*979T>A | |
| NM_005732.3:c.1353T>A | NP_005723.2:p.Ser451Arg | |
| NM_005732.4:c.1353T>A MANE Select | NP_005723.2:p.Ser451Arg |