Linked Data
ClinVar Variation Id:
1188205
ClinVar RCV Id:
RCV001547913
dbSNP Id:
rs201689575
ExAC:
22:24135703 A / T
gnomAD v2:
22-24135703-A-T
gnomAD v3:
22-23793516-A-T
gnomAD v4:
22-23793516-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.23793516A>T , CM000684.2:g.23793516A>T | GRCh38 |
| NC_000022.10:g.24135703A>T , CM000684.1:g.24135703A>T | GRCh37 |
| NC_000022.9:g.22465703A>T | NCBI36 |
| NG_009303.1:g.11554A>T , LRG_520:g.11554A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263121.12:c.233-43A>T | ENSP00000263121.8:n.233-43A>T | |
| ENST00000344921.11:c.206-43A>T | ENSP00000340883.6:n.206-43A>T | |
| ENST00000407082.4:c.206-43A>T | ENSP00000385226.4:n.206-43A>T | |
| ENST00000407422.8:c.206-43A>T | ENSP00000383984.3:n.206-43A>T | |
| ENST00000417137.6:c.233-43A>T | ENSP00000388489.2:n.233-43A>T | |
| ENST00000491967.2:n.396-43A>T | ||
| ENST00000643421.1:n.201-43A>T | ||
| ENST00000644036.2:c.233-43A>T MANE Select | ENSP00000494049.2:n.233-43A>T | |
| ENST00000644462.1:c.68-43A>T | ENSP00000494283.1:n.68-43A>T | |
| ENST00000644619.1:c.233-43A>T | ENSP00000494695.1:n.233-43A>T | |
| ENST00000646421.1:n.2046A>T | ||
| ENST00000646723.1:n.221-43A>T | ||
| ENST00000646911.1:n.145-43A>T | ||
| ENST00000647057.1:c.93+6254A>T | ENSP00000494757.1:n.93+6254A>T | |
| ENST00000263121.11:c.233-43A>T | ENSP00000263121.7:n.233-43A>T | |
| ENST00000344921.10:c.206-43A>T | ENSP00000340883.6:n.206-43A>T | |
| ENST00000407082.3:c.233-43A>T | ENSP00000385226.3:n.233-43A>T | |
| ENST00000407422.7:c.206-43A>T | ENSP00000383984.3:n.206-43A>T | |
| ENST00000417137.5:c.233-43A>T | ENSP00000388489.1:n.233-43A>T | |
| ENST00000634926.1:c.85-43A>T | ||
| ENST00000635578.1:c.58-43A>T | ||
| NM_001007468.1:c.206-43A>T | NP_001007469.1:n.206-43A>T | |
| NM_003073.3:c.233-43A>T , LRG_520t1:c.233-43A>T | NP_003064.2:n.233-43A>T | |
| XM_011530345.1:c.233-43A>T | XP_011528647.1:n.233-43A>T | |
| XM_011530346.1:c.206-43A>T | XP_011528648.1:n.206-43A>T | |
| NM_001007468.2:c.206-43A>T | NP_001007469.1:n.206-43A>T | |
| NM_001317946.1:c.206-43A>T | NP_001304875.1:n.206-43A>T | |
| NM_001362877.1:c.233-43A>T | NP_001349806.1:n.233-43A>T | |
| NM_003073.4:c.233-43A>T | NP_003064.2:n.233-43A>T | |
| NM_001007468.3:c.206-43A>T | NP_001007469.1:n.206-43A>T | |
| NM_001317946.2:c.206-43A>T | NP_001304875.1:n.206-43A>T | |
| NM_001362877.2:c.233-43A>T | NP_001349806.1:n.233-43A>T | |
| NM_003073.5:c.233-43A>T MANE Select | NP_003064.2:n.233-43A>T |