Linked Data
ClinVar Variation Id:
1494825
ClinVar RCV Id:
RCV001989613
dbSNP Id:
rs1023077701
ExAC:
10:79759791 C / T
gnomAD v4:
10-78000033-C-T
COSMIC:
COSM5743413
MyVariant Identifiers:
chr10:g.79759791C>T (hg19)
chr10:g.79759791_79759792delinsTG (hg19)
chr10:g.78000033C>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.78000033C>T , CM000672.2:g.78000033C>T | GRCh38 |
| NC_000010.10:g.79759791C>T , CM000672.1:g.79759791C>T | GRCh37 |
| NC_000010.9:g.79429797C>T | NCBI36 |
| NG_029648.1:g.34508G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698727.1:n.1624G>A | ||
| ENST00000698728.1:n.2143G>A | ||
| ENST00000698729.1:n.3689G>A | ||
| ENST00000698730.1:n.3689G>A | ||
| ENST00000698731.1:c.2423G>A | ENSP00000513898.1:p.Arg808Gln | |
| ENST00000698732.1:c.*1425G>A | ENSP00000513899.1:n.*1425G>A | |
| ENST00000698733.1:c.*1751G>A | ENSP00000513900.1:n.*1751G>A | |
| ENST00000698734.1:c.2564G>A | ENSP00000513901.1:p.Arg855Gln | |
| ENST00000698735.1:n.2679G>A | ||
| ENST00000698736.1:n.2679G>A | ||
| ENST00000698737.1:n.2679G>A | ||
| ENST00000698738.1:n.2679G>A | ||
| ENST00000698739.1:n.2679G>A | ||
| ENST00000372371.8:c.2564G>A MANE Select | ENSP00000361446.3:p.Arg855Gln | |
| ENST00000372371.7:c.2564G>A | ENSP00000361446.3:p.Arg855Gln | |
| ENST00000472014.5:n.469+4683G>A | ||
| NM_007055.3:c.2564G>A | NP_008986.2:p.Arg855Gln | |
| NM_007055.4:c.2564G>A MANE Select | NP_008986.2:p.Arg855Gln |