Linked Data
ClinVar Variation Id:
1552348
ClinVar RCV Id:
RCV002197001
dbSNP Id:
rs756963600
ExAC:
20:62127408 C / T
gnomAD v2:
20-62127408-C-T
gnomAD v3:
20-63496055-C-T
gnomAD v4:
20-63496055-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63496055C>T , CM000682.2:g.63496055C>T | GRCh38 |
| NC_000020.10:g.62127408C>T , CM000682.1:g.62127408C>T | GRCh37 |
| NC_000020.9:g.61597852C>T | NCBI36 |
| NG_034083.1:g.8261G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706948.1:c.145-20G>A | ENSP00000516668.1:n.145-20G>A | |
| ENST00000706949.1:c.145-20G>A | ENSP00000516669.1:n.145-20G>A | |
| ENST00000217182.6:c.145-20G>A MANE Select | ENSP00000217182.3:n.145-20G>A | |
| ENST00000298049.12:c.145-20G>A | ENSP00000298049.8:n.145-20G>A | |
| ENST00000642899.1:c.145-20G>A | ENSP00000493767.1:n.145-20G>A | |
| ENST00000645357.1:c.145-20G>A | ENSP00000494971.1:n.145-20G>A | |
| ENST00000645586.1:n.2694G>A | ||
| ENST00000646335.1:c.145-20G>A | ENSP00000494752.1:n.145-20G>A | |
| ENST00000675519.1:c.177G>A | ENSP00000501859.1:p.Pro59= | |
| ENST00000217182.4:c.145-20G>A | ENSP00000217182.3:n.145-20G>A | |
| ENST00000298049.11:c.145-20G>A | ENSP00000298049.7:n.145-20G>A | |
| NM_001958.3:c.145-20G>A | NP_001949.1:n.145-20G>A | |
| NM_001958.4:c.145-20G>A | NP_001949.1:n.145-20G>A | |
| NM_001958.5:c.145-20G>A MANE Select | NP_001949.1:n.145-20G>A |