Linked Data
ClinVar Variation Id:
940665
ClinVar RCV Id:
RCV001210298
dbSNP Id:
rs768667646
ExAC:
20:32026644 T / C
gnomAD v2:
20-32026644-T-C
gnomAD v4:
20-33438838-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.33438838T>C , CM000682.2:g.33438838T>C | GRCh38 |
| NC_000020.10:g.32026644T>C , CM000682.1:g.32026644T>C | GRCh37 |
| NC_000020.9:g.31490305T>C | NCBI36 |
| NG_011622.1:g.10055A>G , LRG_332:g.10055A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000217381.3:c.496+3A>G MANE Select | ENSP00000217381.2:n.496+3A>G | |
| ENST00000217381.2:c.496+3A>G | ENSP00000217381.2:n.496+3A>G | |
| NM_003098.2:c.496+3A>G , LRG_332t1:c.496+3A>G | NP_003089.1:n.496+3A>G | |
| XM_005260517.1:c.496+3A>G | XP_005260574.1:n.496+3A>G | |
| XM_011529007.1:c.496+3A>G | XP_011527309.1:n.496+3A>G | |
| XM_011529008.1:c.496+3A>G | XP_011527310.1:n.496+3A>G | |
| XR_936612.1:n.729+3A>G | ||
| XM_024451971.1:c.169+3A>G | XP_024307739.1:n.169+3A>G | |
| NM_003098.3:c.496+3A>G MANE Select | NP_003089.1:n.496+3A>G |