Linked Data
ClinVar Variation Id:
92810
dbSNP Id:
rs555895
ExAC:
10:89720907 T / G
gnomAD v2:
10-89720907-T-G
gnomAD v3:
10-87961150-T-G
gnomAD v4:
10-87961150-T-G
ERepo:
CA000255/MONDO:0017623/003
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87961150T>G , CM000672.2:g.87961150T>G | GRCh38 |
| NC_000010.10:g.89720907T>G , CM000672.1:g.89720907T>G | GRCh37 |
| NC_000010.9:g.89710887T>G | NCBI36 |
| NG_007466.2:g.102712T>G , LRG_311:g.102712T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000700029.2:c.1119+32T>G | ENSP00000514759.2:n.1119+32T>G | |
| ENST00000710265.1:c.1026+32T>G | ENSP00000518161.1:n.1026+32T>G | |
| ENST00000472832.3:c.*23T>G | ENSP00000483066.2:n.*23T>G | |
| ENST00000688158.2:n.1761+32T>G | ||
| ENST00000688922.2:c.*856+32T>G | ENSP00000508742.2:n.*856+32T>G | |
| ENST00000700021.1:c.981+32T>G | ENSP00000514757.1:n.981+32T>G | |
| ENST00000700022.1:c.*365+32T>G | ENSP00000514758.1:n.*365+32T>G | |
| ENST00000700023.1:n.2184+32T>G | ||
| ENST00000700024.1:n.2418+32T>G | ||
| ENST00000700025.1:n.1827T>G | ||
| ENST00000700026.1:n.695T>G | ||
| ENST00000706954.1:c.1026+32T>G | ENSP00000516674.1:n.1026+32T>G | |
| ENST00000706955.1:c.*1061+32T>G | ENSP00000516675.1:n.*1061+32T>G | |
| ENST00000686459.1:c.*612+32T>G | ENSP00000508909.1:n.*612+32T>G | |
| ENST00000688158.1:c.*1137+32T>G | ENSP00000509254.1:n.*1137+32T>G | |
| ENST00000688308.1:c.1026+32T>G | ENSP00000508752.1:n.1026+32T>G | |
| ENST00000688922.1:c.947+32T>G | ||
| ENST00000693560.1:c.1545+32T>G | ENSP00000509861.1:n.1545+32T>G | |
| ENST00000371953.8:c.1026+32T>G MANE Select | ENSP00000361021.3:n.1026+32T>G | |
| ENST00000371953.7:c.1026+32T>G | ENSP00000361021.3:n.1026+32T>G | |
| ENST00000472832.2:c.485T>G | ENSP00000483066.1:n.485T>G | |
| NM_000314.5:c.1026+32T>G | NP_000305.3:n.1026+32T>G | |
| NM_000314.6:c.1026+32T>G | NP_000305.3:n.1026+32T>G | |
| NM_001304717.2:c.1545+32T>G | NP_001291646.2:n.1545+32T>G | |
| NM_001304718.1:c.435+32T>G | NP_001291647.1:n.435+32T>G | |
| XM_006717926.2:c.981+32T>G | XP_006717989.1:n.981+32T>G | |
| XM_011539981.1:c.1026+32T>G | XP_011538283.1:n.1026+32T>G | |
| XM_011539982.1:c.930+32T>G | XP_011538284.1:n.930+32T>G | |
| XR_945791.1:n.1596+32T>G | ||
| NM_000314.7:c.1026+32T>G | NP_000305.3:n.1026+32T>G | |
| NM_001304717.5:c.1545+32T>G | NP_001291646.4:n.1545+32T>G | |
| NM_001304718.2:c.435+32T>G | NP_001291647.1:n.435+32T>G | |
| NM_000314.8:c.1026+32T>G MANE Select | NP_000305.3:n.1026+32T>G |