Linked Data
dbSNP Id:
rs3019885
gnomAD v2:
8-118025645-T-G
gnomAD v3:
8-117013406-T-G
gnomAD v4:
8-117013406-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.117013406T>G , CM000670.2:g.117013406T>G | GRCh38 |
| NC_000008.10:g.118025645T>G , CM000670.1:g.118025645T>G | GRCh37 |
| NC_000008.9:g.118094826T>G | NCBI36 |
| NG_016991.1:g.68134T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000427715.2:c.-265-25813T>G | ENSP00000407505.2:n.-265-25813T>G | |
| ENST00000521035.5:n.294+6293T>G | ||
| ENST00000521243.5:c.-107+62287T>G | ENSP00000428545.1:n.-107+62287T>G | |
| ENST00000524274.5:c.-107+62287T>G | ENSP00000427760.1:n.-107+62287T>G | |
| NM_001172811.1:c.-107+62287T>G | NP_001166282.1:n.-107+62287T>G | |
| NM_001172813.1:c.-274+6293T>G | NP_001166284.1:n.-274+6293T>G | |
| NM_001172815.1:c.-265-25813T>G | NP_001166286.1:n.-265-25813T>G | |
| XM_011516881.1:c.-97+62287T>G | XP_011515183.1:n.-97+62287T>G | |
| NM_001172815.2:c.-265-25813T>G | NP_001166286.1:n.-265-25813T>G | |
| XM_024447083.1:c.-107+62287T>G | XP_024302851.1:n.-107+62287T>G | |
| NM_001172811.2:c.-107+62287T>G | NP_001166282.1:n.-107+62287T>G | |
| NM_001172813.2:c.-274+6293T>G | NP_001166284.1:n.-274+6293T>G | |
| NM_001172815.3:c.-265-25813T>G | NP_001166286.1:n.-265-25813T>G |