Linked Data
ClinVar Variation Id:
821674
ClinVar RCV Id:
RCV001016318
dbSNP Id:
rs1273322216
gnomAD v2:
5-131940656-T-A
gnomAD v3:
5-132604964-T-A
gnomAD v4:
5-132604964-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132604964T>A , CM000667.2:g.132604964T>A | GRCh38 |
| NC_000005.9:g.131940656T>A , CM000667.1:g.131940656T>A | GRCh37 |
| NC_000005.8:g.131968555T>A | NCBI36 |
| NG_021151.1:g.53041T>A | |
| NG_021151.2:g.52988T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378823.8:c.2683T>A MANE Select | ENSP00000368100.4:p.Ser895Thr | |
| ENST00000638452.2:c.2386T>A | ENSP00000492349.2:p.Ser796Thr | |
| ENST00000638504.1:n.2291T>A | ||
| ENST00000638568.2:c.2386T>A | ENSP00000491158.2:p.Ser796Thr | |
| ENST00000639899.1:n.3202T>A | ||
| ENST00000640655.2:c.2386T>A | ENSP00000491596.2:p.Ser796Thr | |
| ENST00000651160.1:c.*827T>A | ENSP00000498829.1:n.*827T>A | |
| ENST00000651723.1:c.*2766T>A | ENSP00000498237.1:n.*2766T>A | |
| ENST00000652016.1:c.*900T>A | ENSP00000498267.1:n.*900T>A | |
| ENST00000378823.7:c.2683T>A | ENSP00000368100.4:p.Ser895Thr | |
| ENST00000423956.5:c.*869T>A | ENSP00000390971.1:n.*869T>A | |
| ENST00000533482.5:c.*2309T>A | ENSP00000431225.1:n.*2309T>A | |
| NM_005732.3:c.2683T>A | NP_005723.2:p.Ser895Thr | |
| NM_005732.4:c.2683T>A MANE Select | NP_005723.2:p.Ser895Thr |