Linked Data
ClinVar Variation Id:
1969221
ClinVar RCV Id:
RCV002717085
dbSNP Id:
rs782181399
ExAC:
22:19164467 C / T
gnomAD v2:
22-19164467-C-T
gnomAD v3:
22-19176954-C-T
gnomAD v4:
22-19176954-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19176954C>T , CM000684.2:g.19176954C>T | GRCh38 |
| NC_000022.10:g.19164467C>T , CM000684.1:g.19164467C>T | GRCh37 |
| NC_000022.9:g.17544467C>T | NCBI36 |
| NG_033863.1:g.6910G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000215882.10:c.527-4G>A MANE Select | ENSP00000215882.5:n.527-4G>A | |
| ENST00000215882.9:c.527-4G>A | ENSP00000215882.5:n.527-4G>A | |
| ENST00000451283.5:c.218-4G>A | ENSP00000401480.1:n.218-4G>A | |
| ENST00000461267.1:n.673-4G>A | ||
| ENST00000470922.5:n.669-4G>A | ||
| NM_001256534.1:c.548-4G>A | NP_001243463.1:n.548-4G>A | |
| NM_001287387.1:c.218-4G>A | NP_001274316.1:n.218-4G>A | |
| NM_005984.4:c.527-4G>A | NP_005975.1:n.527-4G>A | |
| NR_046298.2:n.578-4G>A | ||
| NM_005984.5:c.527-4G>A MANE Select | NP_005975.1:n.527-4G>A | |
| NM_001256534.2:c.548-4G>A | NP_001243463.1:n.548-4G>A | |
| NM_001287387.2:c.218-4G>A | NP_001274316.1:n.218-4G>A | |
| NR_046298.3:n.451-4G>A |