Linked Data
ClinVar Variation Id:
2742950
ClinVar RCV Id:
RCV003558173
dbSNP Id:
rs1270051604
gnomAD v2:
18-55361807-T-C
gnomAD v3:
18-57694575-T-C
gnomAD v4:
18-57694575-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.57694575T>C , CM000680.2:g.57694575T>C | GRCh38 |
| NC_000018.9:g.55361807T>C , CM000680.1:g.55361807T>C | GRCh37 |
| NC_000018.8:g.53512805T>C | NCBI36 |
| NG_007148.2:g.113521A>G | |
| NG_007148.3:g.114248A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642462.1:c.1029+7A>G | ENSP00000494712.1:n.1029+7A>G | |
| ENST00000648039.1:c.1029+7A>G | ENSP00000497863.1:n.1029+7A>G | |
| ENST00000648467.1:c.862+7A>G | ||
| ENST00000648908.2:c.1029+7A>G MANE Select | ENSP00000497896.1:n.1029+7A>G | |
| ENST00000283684.8:c.1029+7A>G | ENSP00000283684.4:n.1029+7A>G | |
| ENST00000536015.5:c.1029+7A>G | ENSP00000445359.1:n.1029+7A>G | |
| NM_005603.4:c.1029+7A>G | NP_005594.1:n.1029+7A>G | |
| XM_006722481.2:c.1029+7A>G | XP_006722544.1:n.1029+7A>G | |
| XM_011526020.1:c.1029+7A>G | XP_011524322.1:n.1029+7A>G | |
| XM_011526021.1:c.1029+7A>G | XP_011524323.1:n.1029+7A>G | |
| XM_011526022.1:c.1029+7A>G | XP_011524324.1:n.1029+7A>G | |
| XM_011526023.1:c.915+7A>G | XP_011524325.1:n.915+7A>G | |
| XM_011526024.1:c.309+7A>G | XP_011524326.1:n.309+7A>G | |
| XR_935525.1:n.32-1370T>C | ||
| XR_935526.1:n.32-1370T>C | ||
| NM_005603.6:c.1029+7A>G | NP_005594.2:n.1029+7A>G | |
| XM_006722481.4:c.1029+7A>G | XP_006722544.1:n.1029+7A>G | |
| XM_011526023.3:c.915+7A>G | XP_011524325.1:n.915+7A>G | |
| NM_001374385.1:c.1029+7A>G MANE Select | NP_001361314.1:n.1029+7A>G | |
| NM_001374386.1:c.879+7A>G | NP_001361315.1:n.879+7A>G |