Linked Data
ClinVar Variation Id:
410378
dbSNP Id:
rs577069249
gnomAD v2:
3-180367928-T-C
gnomAD v3:
3-180650140-T-C
gnomAD v4:
3-180650140-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.180650140T>C , CM000665.2:g.180650140T>C | GRCh38 |
| NC_000003.11:g.180367928T>C , CM000665.1:g.180367928T>C | GRCh37 |
| NC_000003.10:g.181850622T>C | NCBI36 |
| NG_029581.1:g.34356A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000476379.6:c.1167+1261A>G MANE Select | ENSP00000417960.2:n.1167+1261A>G | |
| ENST00000650641.1:n.1054+1261A>G | ||
| ENST00000650889.1:n.1558+1261A>G | ||
| ENST00000651046.1:c.975+1261A>G | ENSP00000499175.1:n.975+1261A>G | |
| ENST00000651818.1:n.1117+1261A>G | ||
| ENST00000651922.1:n.492+1261A>G | ||
| ENST00000652024.1:n.1066+1261A>G | ||
| ENST00000652408.1:n.1304+1261A>G | ||
| ENST00000442201.6:c.1167+1261A>G | ENSP00000405708.2:n.1167+1261A>G | |
| ENST00000476379.5:c.1167+1261A>G | ENSP00000417960.1:n.1167+1261A>G | |
| NM_181426.1:c.1167+1261A>G | NP_852091.1:n.1167+1261A>G | |
| NM_181426.2:c.1167+1261A>G MANE Select | NP_852091.1:n.1167+1261A>G |