Linked Data
ClinVar Variation Id:
516236
dbSNP Id:
rs73879461
ExAC:
22:21340198 C / T
gnomAD v2:
22-21340198-C-T
gnomAD v3:
22-20985909-C-T
gnomAD v4:
22-20985909-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20985909C>T , CM000684.2:g.20985909C>T | GRCh38 |
| NC_000022.10:g.21340198C>T , CM000684.1:g.21340198C>T | GRCh37 |
| NC_000022.9:g.19670198C>T | NCBI36 |
| NG_034193.1:g.8641C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700578.1:c.320+12C>T | ENSP00000515073.1:n.320+12C>T | |
| ENST00000493460.2:n.407C>T | ||
| ENST00000642151.1:c.231+12C>T | ||
| ENST00000644435.1:c.226+12C>T | ||
| ENST00000645935.1:c.264-1595C>T | ENSP00000493479.1:n.264-1595C>T | |
| ENST00000646124.2:c.320+12C>T MANE Select | ENSP00000496779.1:n.320+12C>T | |
| ENST00000215739.12:c.320+12C>T | ENSP00000215739.8:n.320+12C>T | |
| ENST00000414985.5:c.320+12C>T | ENSP00000397247.1:n.320+12C>T | |
| ENST00000443265.5:c.*19+12C>T | ENSP00000406466.1:n.*19+12C>T | |
| ENST00000479606.5:n.466+12C>T | ||
| ENST00000493460.1:n.407C>T | ||
| NM_006767.3:c.320+12C>T | NP_006758.2:n.320+12C>T | |
| NM_006767.4:c.320+12C>T MANE Select | NP_006758.2:n.320+12C>T |