Linked Data
ClinVar Variation Id:
742747
ClinVar RCV Id:
RCV000919043
dbSNP Id:
rs140255211
ExAC:
7:38502683 T / C
gnomAD v2:
7-38502683-T-C
gnomAD v3:
7-38463083-T-C
gnomAD v4:
7-38463083-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.38463083T>C , CM000669.2:g.38463083T>C | GRCh38 |
| NC_000007.13:g.38502683T>C , CM000669.1:g.38502683T>C | GRCh37 |
| NC_000007.12:g.38469208T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356264.7:c.780A>G MANE Select | ENSP00000348602.2:p.Thr260= | |
| ENST00000325590.9:c.780A>G | ENSP00000317441.5:p.Thr260= | |
| ENST00000356264.6:c.780A>G | ENSP00000348602.2:p.Thr260= | |
| ENST00000441628.5:c.31A>G | ||
| NM_001635.3:c.780A>G | NP_001626.1:p.Thr260= | |
| NM_139316.2:c.780A>G | NP_647477.1:p.Thr260= | |
| XM_006715689.2:c.780A>G | XP_006715752.1:p.Thr260= | |
| XM_006715690.2:c.780A>G | XP_006715753.1:p.Thr260= | |
| XM_006715691.2:c.780A>G | XP_006715754.1:p.Thr260= | |
| XM_011515271.1:c.780A>G | XP_011513573.1:p.Thr260= | |
| XM_006715689.4:c.780A>G | XP_006715752.1:p.Thr260= | |
| XM_006715690.4:c.780A>G | XP_006715753.1:p.Thr260= | |
| XM_006715691.4:c.780A>G | XP_006715754.1:p.Thr260= | |
| XM_011515271.3:c.780A>G | XP_011513573.1:p.Thr260= | |
| XM_017011995.2:c.780A>G | XP_016867484.1:p.Thr260= | |
| XM_017011996.2:c.780A>G | XP_016867485.1:p.Thr260= | |
| NM_001635.4:c.780A>G MANE Select | NP_001626.1:p.Thr260= | |
| NM_139316.3:c.780A>G | NP_647477.1:p.Thr260= |