Linked Data
ClinVar Variation Id:
262878
dbSNP Id:
rs2006791
ExAC:
4:3487237 A / G
gnomAD v2:
4-3487237-A-G
gnomAD v3:
4-3485510-A-G
gnomAD v4:
4-3485510-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.3485510A>G , CM000666.2:g.3485510A>G | GRCh38 |
| NC_000004.11:g.3487237A>G , CM000666.1:g.3487237A>G | GRCh37 |
| NC_000004.10:g.3457035A>G | NCBI36 |
| NG_013072.2:g.27205A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340083.6:c.533-29A>G MANE Select | ENSP00000344432.5:n.533-29A>G | |
| ENST00000643608.1:c.101-29A>G | ENSP00000495701.1:n.101-29A>G | |
| ENST00000340083.5:c.533-29A>G | ENSP00000344432.5:n.533-29A>G | |
| ENST00000503688.5:n.166-29A>G | ||
| ENST00000507039.5:c.522-29A>G | ENSP00000423614.1:n.522-29A>G | |
| ENST00000513995.1:n.162A>G | ||
| ENST00000515886.5:n.301-29A>G | ||
| NM_001164673.1:c.522-29A>G | NP_001158145.1:n.522-29A>G | |
| NM_001256896.1:c.-398-29A>G | NP_001243825.1:n.-398-29A>G | |
| NM_001301071.1:c.533-29A>G | NP_001288000.1:n.533-29A>G | |
| NM_173660.4:c.533-29A>G | NP_775931.3:n.533-29A>G | |
| XM_011513435.1:c.533-29A>G | XP_011511737.1:n.533-29A>G | |
| XM_011513436.1:c.533-29A>G | XP_011511738.1:n.533-29A>G | |
| XM_011513437.1:c.119-29A>G | XP_011511739.1:n.119-29A>G | |
| NM_001363811.1:c.101-29A>G | NP_001350740.1:n.101-29A>G | |
| XM_011513435.2:c.533-29A>G | XP_011511737.1:n.533-29A>G | |
| XM_011513437.2:c.119-29A>G | XP_011511739.1:n.119-29A>G | |
| NM_173660.5:c.533-29A>G MANE Select | NP_775931.3:n.533-29A>G | |
| NM_001164673.2:c.522-29A>G | NP_001158145.1:n.522-29A>G | |
| NM_001301071.2:c.533-29A>G | NP_001288000.1:n.533-29A>G | |
| NM_001363811.2:c.101-29A>G | NP_001350740.1:n.101-29A>G | |
| NM_001256896.2:c.-398-29A>G | NP_001243825.1:n.-398-29A>G |