Linked Data
ClinVar Variation Id:
285417
dbSNP Id:
rs143612450
ExAC:
11:6413395 C / T
gnomAD v2:
11-6413395-C-T
gnomAD v3:
11-6392165-C-T
gnomAD v4:
11-6392165-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6392165C>T , CM000673.2:g.6392165C>T | GRCh38 |
| NC_000011.9:g.6413395C>T , CM000673.1:g.6413395C>T | GRCh37 |
| NC_000011.8:g.6369971C>T | NCBI36 |
| NG_011780.1:g.6741C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342245.9:c.1091+9C>T MANE Select | ENSP00000340409.4:n.1091+9C>T | |
| ENST00000342245.8:c.1091+9C>T | ENSP00000340409.4:n.1091+9C>T | |
| ENST00000526280.1:c.289C>T | ||
| ENST00000527275.5:c.1088+9C>T | ENSP00000435350.1:n.1088+9C>T | |
| ENST00000531303.5:c.438+662C>T | ENSP00000432625.1:n.438+662C>T | |
| ENST00000533123.5:c.1091+9C>T | ENSP00000435950.1:n.1091+9C>T | |
| ENST00000534405.5:c.1100C>T | ENSP00000434353.1:p.Ser367Leu | |
| NM_000543.4:c.1091+9C>T | NP_000534.3:n.1091+9C>T | |
| NM_001007593.2:c.1088+9C>T | NP_001007594.2:n.1088+9C>T | |
| XM_005253075.3:c.1091+9C>T | XP_005253132.1:n.1091+9C>T | |
| XM_011520303.1:c.1100C>T | XP_011518605.1:p.Ser367Leu | |
| XM_011520304.1:c.1100C>T | XP_011518606.1:p.Ser367Leu | |
| XR_930886.1:n.1398C>T | ||
| NM_001318087.1:c.1091+9C>T | NP_001305016.1:n.1091+9C>T | |
| NM_001318088.1:c.139C>T | NP_001305017.1:p.Arg47Cys | |
| NM_001365135.1:c.1100C>T | NP_001352064.1:p.Ser367Leu | |
| NR_027400.2:n.1276+9C>T | ||
| NR_134502.1:n.623+662C>T | ||
| XM_011520304.2:c.1100C>T | XP_011518606.1:p.Ser367Leu | |
| XR_001747940.2:n.1225C>T | ||
| XR_002957158.1:n.1225C>T | ||
| NM_000543.5:c.1091+9C>T MANE Select | NP_000534.3:n.1091+9C>T | |
| NM_001007593.3:c.1088+9C>T | NP_001007594.2:n.1088+9C>T | |
| NM_001318087.2:c.1091+9C>T | NP_001305016.1:n.1091+9C>T | |
| NM_001318088.2:c.139C>T | NP_001305017.1:p.Arg47Cys | |
| NM_001365135.2:c.1100C>T | NP_001352064.1:p.Ser367Leu | |
| NR_027400.3:n.1216+9C>T | ||
| NR_134502.2:n.563+662C>T |