Linked Data
ClinVar Variation Id:
294415
dbSNP Id:
rs768713729
ExAC:
1:193218850 C / G
gnomAD v2:
1-193218850-C-G
gnomAD v3:
1-193249720-C-G
gnomAD v4:
1-193249720-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.193249720C>G , CM000663.2:g.193249720C>G | GRCh38 |
| NC_000001.10:g.193218850C>G , CM000663.1:g.193218850C>G | GRCh37 |
| NC_000001.9:g.191485473C>G | NCBI36 |
| NG_012691.1:g.132763C>G , LRG_507:g.132763C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367435.5:c.1418-10C>G MANE Select | ENSP00000356405.4:n.1418-10C>G | |
| ENST00000635846.1:c.1175-10C>G | ENSP00000490035.1:n.1175-10C>G | |
| ENST00000643006.1:c.*328-10C>G | ENSP00000496633.1:n.*328-10C>G | |
| ENST00000648071.1:c.*1394-10C>G | ENSP00000497513.1:n.*1394-10C>G | |
| ENST00000649613.1:n.668-10C>G | ||
| ENST00000650197.1:c.*116-10C>G | ENSP00000496929.1:n.*116-10C>G | |
| ENST00000367435.3:c.1418-10C>G | ENSP00000356405.3:n.1418-10C>G | |
| ENST00000477868.1:n.130-10C>G | ||
| NM_024529.4:c.1418-10C>G , LRG_507t1:c.1418-10C>G | NP_078805.3:n.1418-10C>G | |
| NM_024529.5:c.1418-10C>G MANE Select | NP_078805.3:n.1418-10C>G |