Linked Data
ClinVar Variation Id:
1231742
ClinVar RCV Id:
RCV001612506
dbSNP Id:
rs5770917
gnomAD v2:
22-51017353-T-C
gnomAD v3:
22-50578924-T-C
gnomAD v4:
22-50578924-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50578924T>C , CM000684.2:g.50578924T>C | GRCh38 |
| NC_000022.10:g.51017353T>C , CM000684.1:g.51017353T>C | GRCh37 |
| NC_000022.9:g.49364219T>C | NCBI36 |
| NG_012643.1:g.4744A>G | |
| NG_029213.1:g.9076A>G , LRG_855:g.9076A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000452668.1:n.319+112A>G | ||
| ENST00000453634.5:c.328+112A>G | ENSP00000457031.1:n.328+112A>G | |
| ENST00000492556.5:n.2189+112A>G | ||
| NR_027928.2:n.1551+112A>G |