Linked Data
ClinVar Variation Id:
967460
ClinVar RCV Id:
RCV001242376
dbSNP Id:
rs1561645666
gnomAD v4:
5-132604895-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132604895T>C , CM000667.2:g.132604895T>C | GRCh38 |
| NC_000005.9:g.131940587T>C , CM000667.1:g.131940587T>C | GRCh37 |
| NC_000005.8:g.131968486T>C | NCBI36 |
| NG_021151.1:g.52972T>C | |
| NG_021151.2:g.52919T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378823.8:c.2614T>C MANE Select | ENSP00000368100.4:p.Ser872Pro | |
| ENST00000638452.2:c.2317T>C | ENSP00000492349.2:p.Ser773Pro | |
| ENST00000638504.1:n.2222T>C | ||
| ENST00000638568.2:c.2317T>C | ENSP00000491158.2:p.Ser773Pro | |
| ENST00000639899.1:n.3133T>C | ||
| ENST00000640655.2:c.2317T>C | ENSP00000491596.2:p.Ser773Pro | |
| ENST00000651160.1:c.*758T>C | ENSP00000498829.1:n.*758T>C | |
| ENST00000651723.1:c.*2697T>C | ENSP00000498237.1:n.*2697T>C | |
| ENST00000652016.1:c.*831T>C | ENSP00000498267.1:n.*831T>C | |
| ENST00000652485.1:c.2647T>C | ENSP00000498973.1:p.Ser883Pro | |
| ENST00000378823.7:c.2614T>C | ENSP00000368100.4:p.Ser872Pro | |
| ENST00000423956.5:c.*800T>C | ENSP00000390971.1:n.*800T>C | |
| ENST00000533482.5:c.*2240T>C | ENSP00000431225.1:n.*2240T>C | |
| NM_005732.3:c.2614T>C | NP_005723.2:p.Ser872Pro | |
| NM_005732.4:c.2614T>C MANE Select | NP_005723.2:p.Ser872Pro |