Linked Data
ClinVar Variation Id:
309162
dbSNP Id:
rs777685914
gnomAD v2:
12-5022861-A-G
gnomAD v3:
12-4913695-A-G
gnomAD v4:
12-4913695-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.4913695A>G , CM000674.2:g.4913695A>G | GRCh38 |
| NC_000012.11:g.5022861A>G , CM000674.1:g.5022861A>G | GRCh37 |
| NC_000012.10:g.4893122A>G | NCBI36 |
| NG_011815.1:g.8789A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382545.5:c.*829A>G MANE Select | ENSP00000371985.3:n.*829A>G | |
| ENST00000543874.3:n.105+3223A>G | ||
| ENST00000639306.1:c.2155A>G | ENSP00000492506.1:n.2155A>G | |
| ENST00000639680.1:c.131A>G | ||
| ENST00000382545.3:c.*829A>G | ENSP00000371985.3:n.*829A>G | |
| ENST00000541095.1:n.105+3223A>G | ||
| ENST00000543874.2:n.96+3223A>G | ||
| NM_000217.2:c.*829A>G | NP_000208.2:n.*829A>G | |
| NM_000217.3:c.*829A>G MANE Select | NP_000208.2:n.*829A>G |