Linked Data
ClinVar Variation Id:
916217
ClinVar RCV Id:
RCV001171771
dbSNP Id:
rs1472614573
gnomAD v4:
10-78009953-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.78009953G>C , CM000672.2:g.78009953G>C | GRCh38 |
| NC_000010.10:g.79769711G>C , CM000672.1:g.79769711G>C | GRCh37 |
| NC_000010.9:g.79439717G>C | NCBI36 |
| NG_029648.1:g.24588C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698728.1:n.1260C>G | ||
| ENST00000698729.1:n.2806C>G | ||
| ENST00000698730.1:n.2806C>G | ||
| ENST00000698731.1:c.1540C>G | ENSP00000513898.1:p.Arg514Gly | |
| ENST00000698732.1:c.*542C>G | ENSP00000513899.1:n.*542C>G | |
| ENST00000698733.1:c.*868C>G | ENSP00000513900.1:n.*868C>G | |
| ENST00000698734.1:c.1681C>G | ENSP00000513901.1:p.Arg561Gly | |
| ENST00000698735.1:n.1796C>G | ||
| ENST00000698736.1:n.1796C>G | ||
| ENST00000698737.1:n.1796C>G | ||
| ENST00000698738.1:n.1796C>G | ||
| ENST00000698739.1:n.1796C>G | ||
| ENST00000372371.8:c.1681C>G MANE Select | ENSP00000361446.3:p.Arg561Gly | |
| ENST00000372371.7:c.1681C>G | ENSP00000361446.3:p.Arg561Gly | |
| ENST00000473588.2:c.483C>G | ||
| NM_007055.3:c.1681C>G | NP_008986.2:p.Arg561Gly | |
| NM_007055.4:c.1681C>G MANE Select | NP_008986.2:p.Arg561Gly |