Linked Data
ClinVar Variation Id:
1429139
ClinVar RCV Id:
RCV001938780
dbSNP Id:
rs867521564
gnomAD v3:
22-23766278-G-C
gnomAD v4:
22-23766278-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.23766278G>C , CM000684.2:g.23766278G>C | GRCh38 |
| NC_000022.10:g.24108465G>C , CM000684.1:g.24108465G>C | GRCh37 |
| NC_000022.9:g.22438465G>C | NCBI36 |
| NG_034223.1:g.6695C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000484558.3:c.262-3C>G MANE Select | ENSP00000418428.3:n.262-3C>G | |
| ENST00000401675.7:c.280C>G | ENSP00000384973.3:p.Gln94Glu | |
| ENST00000484558.2:c.262-3C>G | ENSP00000418428.2:n.262-3C>G | |
| ENST00000517886.1:c.209-3C>G | ENSP00000429976.1:n.209-3C>G | |
| ENST00000520222.1:c.42-3C>G | ENSP00000430042.1:n.42-3C>G | |
| ENST00000523865.1:n.187C>G | ||
| NM_001301339.1:c.280C>G | NP_001288268.1:p.Gln94Glu | |
| NM_213720.2:c.262-3C>G | NP_998885.1:n.262-3C>G | |
| NR_125755.1:n.307-3C>G | ||
| NR_125756.1:n.140-3C>G | ||
| NM_001301339.2:c.280C>G | NP_001288268.1:p.Gln94Glu | |
| NM_213720.3:c.262-3C>G MANE Select | NP_998885.1:n.262-3C>G | |
| NR_125755.2:n.307-3C>G | ||
| NR_125756.2:n.140-3C>G |