Linked Data
ClinVar Variation Id:
263166
dbSNP Id:
rs115704555
ExAC:
1:957568 A / G
gnomAD v2:
1-957568-A-G
gnomAD v3:
1-1022188-A-G
gnomAD v4:
1-1022188-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1022188A>G , CM000663.2:g.1022188A>G | GRCh38 |
| NC_000001.10:g.957568A>G , CM000663.1:g.957568A>G | GRCh37 |
| NC_000001.9:g.947431A>G | NCBI36 |
| NG_016346.1:g.7066A>G , LRG_198:g.7066A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379370.7:c.202-13A>G MANE Select | ENSP00000368678.2:n.202-13A>G | |
| ENST00000379370.6:c.202-13A>G | ENSP00000368678.2:n.202-13A>G | |
| ENST00000620552.4:c.-213-13A>G | ENSP00000484607.1:n.-213-13A>G | |
| NM_001305275.1:c.202-13A>G | NP_001292204.1:n.202-13A>G | |
| NM_198576.3:c.202-13A>G | NP_940978.2:n.202-13A>G | |
| XM_005244749.2:c.202-13A>G | XP_005244806.1:n.202-13A>G | |
| XM_006710635.2:c.202-13A>G | XP_006710698.1:n.202-13A>G | |
| XM_011541429.1:c.202-13A>G | XP_011539731.1:n.202-13A>G | |
| XM_011541430.1:c.202-13A>G | XP_011539732.1:n.202-13A>G | |
| XR_946650.1:n.269-13A>G | ||
| XM_005244749.3:c.202-13A>G | XP_005244806.1:n.202-13A>G | |
| XM_011541429.2:c.202-13A>G | XP_011539731.1:n.202-13A>G | |
| XR_946650.2:n.273-13A>G | ||
| NM_001305275.2:c.202-13A>G | NP_001292204.1:n.202-13A>G | |
| NM_198576.4:c.202-13A>G MANE Select | NP_940978.2:n.202-13A>G |