Linked Data
ClinVar Variation Id:
309209
dbSNP Id:
rs61907267
gnomAD v2:
12-5026266-A-G
gnomAD v3:
12-4917100-A-G
gnomAD v4:
12-4917100-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.4917100A>G , CM000674.2:g.4917100A>G | GRCh38 |
| NC_000012.11:g.5026266A>G , CM000674.1:g.5026266A>G | GRCh37 |
| NC_000012.10:g.4896527A>G | NCBI36 |
| NG_011815.1:g.12194A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382545.5:c.*4234A>G MANE Select | ENSP00000371985.3:n.*4234A>G | |
| ENST00000543874.3:n.106-686A>G | ||
| ENST00000639306.1:c.2184-686A>G | ENSP00000492506.1:n.2184-686A>G | |
| ENST00000639680.1:c.160-686A>G | ||
| ENST00000382545.3:c.*4234A>G | ENSP00000371985.3:n.*4234A>G | |
| ENST00000541095.1:n.105+6628A>G | ||
| ENST00000543874.2:n.97-686A>G | ||
| NM_000217.2:c.*4234A>G | NP_000208.2:n.*4234A>G | |
| NM_000217.3:c.*4234A>G MANE Select | NP_000208.2:n.*4234A>G |