Linked Data
ClinVar Variation Id:
840655
ClinVar RCV Id:
RCV001042697
dbSNP Id:
rs2043116688
gnomAD v4:
15-48441754-A-C
COSMIC:
COSM4878821
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48441754A>C , CM000677.2:g.48441754A>C | GRCh38 |
| NC_000015.9:g.48733951A>C , CM000677.1:g.48733951A>C | GRCh37 |
| NC_000015.8:g.46521243A>C | NCBI36 |
| NG_008805.2:g.209035T>G , LRG_778:g.209035T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.6130T>G | ENSP00000453958.2:p.Phe2044Val | |
| ENST00000674301.2:c.6130T>G | ENSP00000501333.2:p.Phe2044Val | |
| ENST00000316623.10:c.6130T>G MANE Select | ENSP00000325527.5:p.Phe2044Val | |
| ENST00000674301.1:c.1129T>G | ENSP00000501333.1:p.Phe377Val | |
| ENST00000316623.9:c.6130T>G | ENSP00000325527.5:p.Phe2044Val | |
| ENST00000537463.6:c.*1893T>G | ENSP00000440294.2:n.*1893T>G | |
| ENST00000559133.5:c.1437T>G | ||
| ENST00000560820.1:n.250T>G | ||
| NM_000138.4:c.6130T>G , LRG_778t1:c.6130T>G | NP_000129.3:p.Phe2044Val | |
| NM_000138.5:c.6130T>G MANE Select | NP_000129.3:p.Phe2044Val |