Linked Data
ClinVar Variation Id:
1231545
ClinVar RCV Id:
RCV001610201
dbSNP Id:
rs5018648
gnomAD v2:
4-6292818-C-G
gnomAD v3:
4-6291091-C-G
gnomAD v4:
4-6291091-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6291091C>G , CM000666.2:g.6291091C>G | GRCh38 |
| NC_000004.11:g.6292818C>G , CM000666.1:g.6292818C>G | GRCh37 |
| NC_000004.10:g.6343719C>G | NCBI36 |
| NG_011700.1:g.26242C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682275.1:c.461-106C>G | ENSP00000507852.1:n.461-106C>G | |
| ENST00000683395.1:c.451-106C>G | ||
| ENST00000684087.1:c.461-106C>G | ENSP00000506978.1:n.461-106C>G | |
| ENST00000684700.1:c.461-106C>G | ENSP00000507806.1:n.461-106C>G | |
| ENST00000506362.2:c.212-106C>G | ENSP00000424103.2:n.212-106C>G | |
| ENST00000673642.1:c.260-106C>G | ENSP00000501242.1:n.260-106C>G | |
| ENST00000673991.1:c.461-106C>G | ENSP00000501033.1:n.461-106C>G | |
| ENST00000674051.1:c.335-106C>G | ENSP00000501083.1:n.335-106C>G | |
| ENST00000226760.5:c.461-106C>G MANE Select | ENSP00000226760.1:n.461-106C>G | |
| ENST00000503569.5:c.461-106C>G | ENSP00000423337.1:n.461-106C>G | |
| ENST00000506362.1:c.58-106C>G | ||
| ENST00000507765.1:n.646-106C>G | ||
| NM_001145853.1:c.461-106C>G | NP_001139325.1:n.461-106C>G | |
| NM_006005.3:c.461-106C>G MANE Select | NP_005996.2:n.461-106C>G | |
| XM_017008586.1:c.470-106C>G | XP_016864075.1:n.470-106C>G |