Linked Data
ClinVar Variation Id:
1283572
ClinVar RCV Id:
RCV001696716
dbSNP Id:
rs111815477
ExAC:
5:1213527 A / G
gnomAD v2:
5-1213527-A-G
gnomAD v3:
5-1213412-A-G
gnomAD v4:
5-1213412-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1213412A>G , CM000667.2:g.1213412A>G | GRCh38 |
| NC_000005.9:g.1213527A>G , CM000667.1:g.1213527A>G | GRCh37 |
| NC_000005.8:g.1266527A>G | NCBI36 |
| NG_008282.1:g.16818A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304460.11:c.664-51A>G MANE Select | ENSP00000305302.10:n.664-51A>G | |
| ENST00000304460.10:c.664-51A>G | ENSP00000305302.10:n.664-51A>G | |
| ENST00000515652.5:c.572-51A>G | ENSP00000425701.1:n.572-51A>G | |
| NM_001003841.2:c.664-51A>G | NP_001003841.1:n.664-51A>G | |
| NM_001003841.3:c.664-51A>G MANE Select | NP_001003841.1:n.664-51A>G |