Linked Data
ClinVar Variation Id:
8731
dbSNP Id:
rs781222705
ExAC:
2:26461799 T / C
gnomAD v2:
2-26461799-T-C
gnomAD v3:
2-26238931-T-C
gnomAD v4:
2-26238931-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26238931T>C , CM000664.2:g.26238931T>C | GRCh38 |
| NC_000002.11:g.26461799T>C , CM000664.1:g.26461799T>C | GRCh37 |
| NC_000002.10:g.26315303T>C | NCBI36 |
| NG_007121.1:g.10691A>G | |
| NG_007121.2:g.10691A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000380649.8:c.180+3A>G MANE Select | ENSP00000370023.3:n.180+3A>G | |
| ENST00000471743.2:n.191+3A>G | ||
| ENST00000492433.2:c.180+3A>G | ENSP00000438039.2:n.180+3A>G | |
| ENST00000643057.1:c.*71+3A>G | ENSP00000493761.1:n.*71+3A>G | |
| ENST00000643063.1:c.180+3A>G | ENSP00000495353.1:n.180+3A>G | |
| ENST00000643233.1:c.*71+3A>G | ENSP00000493880.1:n.*71+3A>G | |
| ENST00000644428.1:c.180+3A>G | ENSP00000495560.1:n.180+3A>G | |
| ENST00000645274.1:c.180+3A>G | ENSP00000493996.1:n.180+3A>G | |
| ENST00000646483.1:c.180+3A>G | ENSP00000496185.1:n.180+3A>G | |
| ENST00000380649.7:c.180+3A>G | ENSP00000370023.3:n.180+3A>G | |
| NM_000182.4:c.180+3A>G | NP_000173.2:n.180+3A>G | |
| NM_000182.5:c.180+3A>G MANE Select | NP_000173.2:n.180+3A>G |