Linked Data
ClinVar Variation Id:
307340
ClinVar RCV Id:
RCV000313327
dbSNP Id:
rs746896090
gnomAD v2:
12-115109175-A-C
gnomAD v3:
12-114671370-A-C
gnomAD v4:
12-114671370-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.114671370A>C , CM000674.2:g.114671370A>C | GRCh38 |
| NC_000012.11:g.115109175A>C , CM000674.1:g.115109175A>C | GRCh37 |
| NC_000012.10:g.113593558A>C | NCBI36 |
| NG_008315.1:g.17795T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349155.7:c.*471T>G MANE Select | ENSP00000257567.2:n.*471T>G | |
| ENST00000257566.7:c.*471T>G | ENSP00000257566.3:n.*471T>G | |
| ENST00000349155.6:c.*471T>G | ENSP00000257567.2:n.*471T>G | |
| NM_005996.3:c.*471T>G | NP_005987.3:n.*471T>G | |
| NM_016569.3:c.*471T>G | NP_057653.3:n.*471T>G | |
| NM_005996.4:c.*471T>G MANE Select | NP_005987.3:n.*471T>G | |
| NM_016569.4:c.*471T>G | NP_057653.3:n.*471T>G |