Linked Data
ClinVar Variation Id:
190793
dbSNP Id:
rs786205806
gnomAD v2:
21-35736455-G-A
gnomAD v3:
21-34364156-G-A
gnomAD v4:
21-34364156-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34364156G>A , CM000683.2:g.34364156G>A | GRCh38 |
| NC_000021.8:g.35736455G>A , CM000683.1:g.35736455G>A | GRCh37 |
| NC_000021.7:g.34658325G>A | NCBI36 |
| NG_008804.1:g.5133G>A , LRG_291:g.5133G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000290310.4:c.-13+5G>A MANE Select | ENSP00000290310.2:n.-13+5G>A | |
| ENST00000290310.3:c.-13+5G>A | ENSP00000290310.2:n.-13+5G>A | |
| NM_172201.1:c.-13+5G>A , LRG_291t1:c.-13+5G>A | NP_751951.1:n.-13+5G>A | |
| XR_937683.1:n.1046-2080C>T | ||
| XR_937684.1:n.1046-2080C>T | ||
| XR_001755012.2:n.1672-2080C>T | ||
| XR_001755013.2:n.1551-2080C>T | ||
| XR_937683.2:n.1046-2080C>T | ||
| NM_172201.2:c.-13+5G>A MANE Select | NP_751951.1:n.-13+5G>A |