Linked Data
ClinVar Variation Id:
1528440
ClinVar RCV Id:
RCV002071260
dbSNP Id:
rs538785825
ExAC:
2:73828326 T / C
gnomAD v2:
2-73828326-T-C
gnomAD v3:
2-73601199-T-C
gnomAD v4:
2-73601199-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73601199T>C , CM000664.2:g.73601199T>C | GRCh38 |
| NC_000002.11:g.73828326T>C , CM000664.1:g.73828326T>C | GRCh37 |
| NC_000002.10:g.73681834T>C | NCBI36 |
| NG_011690.1:g.220447T>C , LRG_741:g.220447T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.11496T>C | ENSP00000507671.1:p.Val3832= | |
| ENST00000682801.1:c.11167-986T>C | ENSP00000507862.1:n.11167-986T>C | |
| ENST00000682859.1:c.11496T>C | ENSP00000508222.1:p.Val3832= | |
| ENST00000683791.1:c.4582T>C | ||
| ENST00000684460.1:c.8777T>C | ||
| ENST00000684548.1:c.11496T>C | ENSP00000507421.1:p.Val3832= | |
| ENST00000684590.1:c.5943T>C | ENSP00000507376.1:p.Val1981= | |
| ENST00000684656.1:c.8961T>C | ||
| ENST00000613296.6:c.11877T>C MANE Select | ENSP00000482968.1:p.Val3959= | |
| ENST00000651057.1:c.2031T>C | ENSP00000498504.1:p.Val677= | |
| ENST00000651434.1:c.3233T>C | ||
| ENST00000651750.1:c.1260+318T>C | ||
| ENST00000652487.1:c.3048T>C | ||
| ENST00000464408.3:n.52T>C | ||
| ENST00000484298.5:c.11751T>C | ENSP00000478155.1:p.Val3917= | |
| ENST00000613296.4:c.11877T>C | ENSP00000482968.1:p.Val3959= | |
| ENST00000620466.4:n.5680T>C | ||
| NM_015120.4:c.11880T>C , LRG_741t1:c.11880T>C | NP_055935.4:p.Val3960= | |
| NM_001378454.1:c.11877T>C MANE Select | NP_001365383.1:p.Val3959= |