Linked Data
ClinVar Variation Id:
1592959
ClinVar RCV Id:
RCV002111984
dbSNP Id:
rs998028927
gnomAD v2:
20-32026848-A-C
gnomAD v4:
20-33439042-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.33439042A>C , CM000682.2:g.33439042A>C | GRCh38 |
| NC_000020.10:g.32026848A>C , CM000682.1:g.32026848A>C | GRCh37 |
| NC_000020.9:g.31490509A>C | NCBI36 |
| NG_011622.1:g.9851T>G , LRG_332:g.9851T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000217381.3:c.311-16T>G MANE Select | ENSP00000217381.2:n.311-16T>G | |
| ENST00000217381.2:c.311-16T>G | ENSP00000217381.2:n.311-16T>G | |
| NM_003098.2:c.311-16T>G , LRG_332t1:c.311-16T>G | NP_003089.1:n.311-16T>G | |
| XM_005260517.1:c.311-16T>G | XP_005260574.1:n.311-16T>G | |
| XM_011529007.1:c.311-16T>G | XP_011527309.1:n.311-16T>G | |
| XM_011529008.1:c.311-16T>G | XP_011527310.1:n.311-16T>G | |
| XR_936612.1:n.544-16T>G | ||
| XM_024451971.1:c.-17-16T>G | XP_024307739.1:n.-17-16T>G | |
| NM_003098.3:c.311-16T>G MANE Select | NP_003089.1:n.311-16T>G |