Linked Data
ClinVar Variation Id:
1900172
ClinVar RCV Id:
RCV002576379
dbSNP Id:
rs375792077
ExAC:
20:45221180 C / T
gnomAD v2:
20-45221180-C-T
gnomAD v3:
20-46592541-C-T
gnomAD v4:
20-46592541-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46592541C>T , CM000682.2:g.46592541C>T | GRCh38 |
| NC_000020.10:g.45221180C>T , CM000682.1:g.45221180C>T | GRCh37 |
| NC_000020.9:g.44654587C>T | NCBI36 |
| NG_047182.1:g.96945G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000279027.9:c.795-12G>A MANE Select | ENSP00000279027.4:n.795-12G>A | |
| ENST00000279027.8:c.795-12G>A | ENSP00000279027.4:n.795-12G>A | |
| ENST00000290317.9:c.654-12G>A | ENSP00000290317.5:n.654-12G>A | |
| ENST00000372121.5:c.587-95G>A | ENSP00000361193.2:n.587-95G>A | |
| ENST00000413164.6:c.728-95G>A | ENSP00000415852.2:n.728-95G>A | |
| ENST00000420568.5:c.617-95G>A | ENSP00000395095.1:n.617-95G>A | |
| ENST00000450298.5:c.283-12G>A | ||
| ENST00000468915.5:c.654-12G>A | ENSP00000417784.1:n.654-12G>A | |
| ENST00000472148.5:c.654-12G>A | ENSP00000420177.1:n.654-12G>A | |
| ENST00000495082.5:c.654-12G>A | ENSP00000419621.1:n.654-12G>A | |
| NM_001011554.2:c.654-12G>A | NP_001011554.1:n.654-12G>A | |
| NM_001193339.1:c.728-95G>A | NP_001180268.1:n.728-95G>A | |
| NM_001193340.1:c.654-12G>A | NP_001180269.1:n.654-12G>A | |
| NM_001193342.1:c.501-12G>A | NP_001180271.1:n.501-12G>A | |
| NM_022829.5:c.795-12G>A | NP_073740.2:n.795-12G>A | |
| NM_022829.6:c.795-12G>A MANE Select | NP_073740.2:n.795-12G>A | |
| NM_001011554.3:c.654-12G>A | NP_001011554.1:n.654-12G>A | |
| NM_001193339.2:c.728-95G>A | NP_001180268.1:n.728-95G>A | |
| NM_001193340.2:c.654-12G>A | NP_001180269.1:n.654-12G>A | |
| NM_001193342.2:c.501-12G>A | NP_001180271.1:n.501-12G>A |