Linked Data
ClinVar Variation Id:
205387
ClinVar RCV Id:
RCV000187344
dbSNP Id:
rs756262882
ExAC:
6:52318879 T / A
gnomAD v2:
6-52318879-T-A
gnomAD v3:
6-52454081-T-A
gnomAD v4:
6-52454081-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.52454081T>A , CM000668.2:g.52454081T>A | GRCh38 |
| NC_000006.11:g.52318879T>A , CM000668.1:g.52318879T>A | GRCh37 |
| NC_000006.10:g.52426838T>A | NCBI36 |
| NG_016760.1:g.38886T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371068.11:c.724-14T>A MANE Select | ENSP00000360107.4:n.724-14T>A | |
| ENST00000480623.6:c.724-14T>A | ENSP00000434498.2:n.724-14T>A | |
| ENST00000635760.1:c.400-14T>A | ENSP00000489765.1:n.400-14T>A | |
| ENST00000635812.1:c.*11T>A | ENSP00000490859.1:n.*11T>A | |
| ENST00000635866.1:c.*593-14T>A | ENSP00000489866.1:n.*593-14T>A | |
| ENST00000635911.1:n.2228T>A | ||
| ENST00000635984.1:c.400-14T>A | ENSP00000489921.1:n.400-14T>A | |
| ENST00000635996.1:c.724-14T>A | ENSP00000490256.1:n.724-14T>A | |
| ENST00000636107.1:c.724-14T>A | ENSP00000489680.1:n.724-14T>A | |
| ENST00000636311.1:n.618-14T>A | ||
| ENST00000636343.1:c.390-14T>A | ||
| ENST00000636379.1:c.436-14T>A | ENSP00000490622.1:n.436-14T>A | |
| ENST00000636398.1:c.410T>A | ENSP00000489654.1:n.410T>A | |
| ENST00000636489.1:c.667-14T>A | ENSP00000489998.1:n.667-14T>A | |
| ENST00000636616.1:n.326T>A | ||
| ENST00000636702.1:c.694-14T>A | ENSP00000489623.1:n.694-14T>A | |
| ENST00000636954.1:c.667-14T>A | ENSP00000489966.1:n.667-14T>A | |
| ENST00000637089.1:c.724-14T>A | ENSP00000489854.1:n.724-14T>A | |
| ENST00000637263.1:c.724-14T>A | ENSP00000489700.1:n.724-14T>A | |
| ENST00000637340.1:n.2635T>A | ||
| ENST00000637353.1:c.724-14T>A | ENSP00000490441.1:n.724-14T>A | |
| ENST00000637602.1:c.*425-14T>A | ENSP00000490074.1:n.*425-14T>A | |
| ENST00000637849.1:n.788-14T>A | ||
| ENST00000637892.1:n.928-14T>A | ||
| ENST00000371068.9:c.724-14T>A | ENSP00000360107.4:n.724-14T>A | |
| ENST00000480623.5:c.*1130T>A | ENSP00000434498.1:n.*1130T>A | |
| ENST00000538167.2:c.667-14T>A | ENSP00000444521.1:n.667-14T>A | |
| NM_001172420.1:c.667-14T>A | NP_001165891.1:n.667-14T>A | |
| NM_018100.3:c.724-14T>A | NP_060570.2:n.724-14T>A | |
| NR_033327.1:n.2182T>A | ||
| NM_018100.4:c.724-14T>A MANE Select | NP_060570.2:n.724-14T>A | |
| NM_001172420.2:c.667-14T>A | NP_001165891.1:n.667-14T>A | |
| NR_033327.2:n.2036T>A |