Linked Data
ClinVar Variation Id:
140535
dbSNP Id:
rs6677717
ExAC:
1:40737516 T / G
gnomAD v2:
1-40737516-T-G
gnomAD v3:
1-40271844-T-G
gnomAD v4:
1-40271844-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40271844T>G , CM000663.2:g.40271844T>G | GRCh38 |
| NC_000001.10:g.40737516T>G , CM000663.1:g.40737516T>G | GRCh37 |
| NC_000001.9:g.40510103T>G | NCBI36 |
| NG_008695.1:g.18784T>G , LRG_212:g.18784T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372759.4:c.628-50T>G MANE Select | ENSP00000361845.3:n.628-50T>G | |
| ENST00000674703.1:c.*469-50T>G | ENSP00000501674.1:n.*469-50T>G | |
| ENST00000675754.1:c.*370-50T>G | ENSP00000502555.1:n.*370-50T>G | |
| ENST00000675937.1:c.628-50T>G | ENSP00000502683.1:n.628-50T>G | |
| ENST00000372759.3:c.628-50T>G | ENSP00000361845.3:n.628-50T>G | |
| NM_005857.4:c.628-50T>G | NP_005848.2:n.628-50T>G | |
| XM_011540486.1:c.379-50T>G | XP_011538788.1:n.379-50T>G | |
| XM_011540487.1:c.628-50T>G | XP_011538789.1:n.628-50T>G | |
| XR_001736906.2:n.822-50T>G | ||
| NM_005857.5:c.628-50T>G MANE Select | NP_005848.2:n.628-50T>G |