Linked Data
ClinVar Variation Id:
340913
dbSNP Id:
rs184021903
ExAC:
22:24145622 C / T
gnomAD v2:
22-24145622-C-T
gnomAD v3:
22-23803435-C-T
gnomAD v4:
22-23803435-C-T
COSMIC:
COSM1099
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.23803435C>T , CM000684.2:g.23803435C>T | GRCh38 |
| NC_000022.10:g.24145622C>T , CM000684.1:g.24145622C>T | GRCh37 |
| NC_000022.9:g.22475622C>T | NCBI36 |
| NG_009303.1:g.21473C>T , LRG_520:g.21473C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263121.12:c.490+13C>T | ENSP00000263121.8:n.490+13C>T | |
| ENST00000344921.11:c.655+13C>T | ENSP00000340883.6:n.655+13C>T | |
| ENST00000407422.8:c.601+13C>T | ENSP00000383984.3:n.601+13C>T | |
| ENST00000417137.6:c.682+13C>T | ENSP00000388489.2:n.682+13C>T | |
| ENST00000642275.1:n.876+13C>T | ||
| ENST00000642727.1:c.807C>T | ENSP00000495144.1:n.807C>T | |
| ENST00000643421.1:n.609C>T | ||
| ENST00000644036.2:c.628+13C>T MANE Select | ENSP00000494049.2:n.628+13C>T | |
| ENST00000644462.1:c.1346+13C>T | ENSP00000494283.1:n.1346+13C>T | |
| ENST00000644467.1:n.1422+13C>T | ||
| ENST00000644619.1:c.*695+13C>T | ENSP00000494695.1:n.*695+13C>T | |
| ENST00000646723.1:n.2829+13C>T | ||
| ENST00000646911.1:n.540+13C>T | ||
| ENST00000647057.1:c.*122+13C>T | ENSP00000494757.1:n.*122+13C>T | |
| ENST00000263121.11:c.628+13C>T | ENSP00000263121.7:n.628+13C>T | |
| ENST00000344921.10:c.655+13C>T | ENSP00000340883.6:n.655+13C>T | |
| ENST00000407082.3:c.490+13C>T | ENSP00000385226.3:n.490+13C>T | |
| ENST00000407422.7:c.601+13C>T | ENSP00000383984.3:n.601+13C>T | |
| NM_001007468.1:c.601+13C>T | NP_001007469.1:n.601+13C>T | |
| NM_003073.3:c.628+13C>T , LRG_520t1:c.628+13C>T | NP_003064.2:n.628+13C>T | |
| XM_011530345.1:c.682+13C>T | XP_011528647.1:n.682+13C>T | |
| XM_011530346.1:c.655+13C>T | XP_011528648.1:n.655+13C>T | |
| NM_001007468.2:c.601+13C>T | NP_001007469.1:n.601+13C>T | |
| NM_001317946.1:c.655+13C>T | NP_001304875.1:n.655+13C>T | |
| NM_001362877.1:c.682+13C>T | NP_001349806.1:n.682+13C>T | |
| NM_003073.4:c.628+13C>T | NP_003064.2:n.628+13C>T | |
| NM_001007468.3:c.601+13C>T | NP_001007469.1:n.601+13C>T | |
| NM_001317946.2:c.655+13C>T | NP_001304875.1:n.655+13C>T | |
| NM_001362877.2:c.682+13C>T | NP_001349806.1:n.682+13C>T | |
| NM_003073.5:c.628+13C>T MANE Select | NP_003064.2:n.628+13C>T |