Linked Data
ClinVar Variation Id:
2147883
ClinVar RCV Id:
RCV003061127
dbSNP Id:
rs990076088
gnomAD v2:
7-94052353-C-G
gnomAD v3:
7-94423041-C-G
gnomAD v4:
7-94423041-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94423041C>G , CM000669.2:g.94423041C>G | GRCh38 |
| NC_000007.13:g.94052353C>G , CM000669.1:g.94052353C>G | GRCh37 |
| NC_000007.12:g.93890289C>G | NCBI36 |
| NG_007405.1:g.33481C>G , LRG_2:g.33481C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297268.11:c.2488C>G MANE Select | ENSP00000297268.6:p.Arg830Gly | |
| ENST00000297268.10:c.2488C>G | ENSP00000297268.6:p.Arg830Gly | |
| ENST00000481570.5:n.571C>G | ||
| ENST00000497316.5:n.885C>G | ||
| ENST00000620463.1:c.2482C>G | ENSP00000477719.1:p.Arg828Gly | |
| NM_000089.3:c.2488C>G , LRG_2t1:c.2488C>G | NP_000080.2:p.Arg830Gly | |
| NM_000089.4:c.2488C>G MANE Select | NP_000080.2:p.Arg830Gly |