Linked Data
ClinVar Variation Id:
1547325
ClinVar RCV Id:
RCV002186759
dbSNP Id:
rs767063578
gnomAD v3:
7-116771832-T-G
gnomAD v4:
7-116771832-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.116771832T>G , CM000669.2:g.116771832T>G | GRCh38 |
| NC_000007.13:g.116411886T>G , CM000669.1:g.116411886T>G | GRCh37 |
| NC_000007.12:g.116199122T>G | NCBI36 |
| NG_008996.1:g.104428T>G , LRG_662:g.104428T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000436117.3:c.*493-17T>G | ENSP00000410980.2:n.*493-17T>G | |
| ENST00000318493.11:c.2942-17T>G | ENSP00000317272.6:n.2942-17T>G | |
| ENST00000397752.8:c.2888-17T>G MANE Select | ENSP00000380860.3:n.2888-17T>G | |
| ENST00000318493.10:c.2942-17T>G | ENSP00000317272.6:n.2942-17T>G | |
| ENST00000397752.7:c.2888-17T>G | ENSP00000380860.3:n.2888-17T>G | |
| ENST00000454623.1:c.283+178T>G | ENSP00000398140.1:n.283+178T>G | |
| NM_000245.2:c.2888-17T>G | NP_000236.2:n.2888-17T>G | |
| NM_001127500.1:c.2942-17T>G , LRG_662t1:c.2942-17T>G | NP_001120972.1:n.2942-17T>G | |
| XM_006715990.2:c.1598-17T>G | XP_006716053.1:n.1598-17T>G | |
| XM_006715991.2:c.1598-17T>G | XP_006716054.1:n.1598-17T>G | |
| XM_011516223.1:c.2945-17T>G | XP_011514525.1:n.2945-17T>G | |
| NM_000245.3:c.2888-17T>G | NP_000236.2:n.2888-17T>G | |
| NM_001127500.2:c.2942-17T>G | NP_001120972.1:n.2942-17T>G | |
| NM_001324402.1:c.1598-17T>G | NP_001311331.1:n.1598-17T>G | |
| XR_001744772.1:n.3019-17T>G | ||
| NM_001127500.3:c.2942-17T>G | NP_001120972.1:n.2942-17T>G | |
| NM_000245.4:c.2888-17T>G MANE Select | NP_000236.2:n.2888-17T>G | |
| NM_001324402.2:c.1598-17T>G | NP_001311331.1:n.1598-17T>G |