Linked Data
ClinVar Variation Id:
2071695
ClinVar RCV Id:
RCV002949369
dbSNP Id:
rs2068619751
gnomAD v4:
3-128481045-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.128481045A>G , CM000665.2:g.128481045A>G | GRCh38 |
| NC_000003.11:g.128199888A>G , CM000665.1:g.128199888A>G | GRCh37 |
| NC_000003.10:g.129682578A>G | NCBI36 |
| NG_029334.1:g.17143T>C , LRG_295:g.17143T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000487848.6:c.1417T>C MANE Plus Clinical | ENSP00000417074.1:p.Ser473Pro | |
| ENST00000696466.1:c.1699T>C | ENSP00000512647.1:p.Ser567Pro | |
| ENST00000696672.1:c.392T>C | ENSP00000512796.1:p.Val131Ala | |
| ENST00000341105.7:c.1417T>C MANE Select | ENSP00000345681.2:p.Ser473Pro | |
| ENST00000341105.6:c.1417T>C | ENSP00000345681.2:p.Ser473Pro | |
| ENST00000430265.6:c.1375T>C | ENSP00000400259.2:p.Ser459Pro | |
| ENST00000487848.5:c.1417T>C | ENSP00000417074.1:p.Ser473Pro | |
| ENST00000489987.1:n.534T>C | ||
| NM_001145661.1:c.1417T>C , LRG_295t1:c.1417T>C | NP_001139133.1:p.Ser473Pro | |
| NM_001145662.1:c.1375T>C | NP_001139134.1:p.Ser459Pro | |
| NM_032638.4:c.1417T>C , LRG_295t2:c.1417T>C | NP_116027.2:p.Ser473Pro | |
| NM_001145661.2:c.1417T>C MANE Plus Clinical | NP_001139133.1:p.Ser473Pro | |
| NM_032638.5:c.1417T>C MANE Select | NP_116027.2:p.Ser473Pro |