Linked Data
ClinVar Variation Id:
504791
dbSNP Id:
rs144176460
ExAC:
12:80626852 A / G
gnomAD v2:
12-80626852-A-G
gnomAD v3:
12-80233072-A-G
gnomAD v4:
12-80233072-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.80233072A>G , CM000674.2:g.80233072A>G | GRCh38 |
| NC_000012.11:g.80626852A>G , CM000674.1:g.80626852A>G | GRCh37 |
| NC_000012.10:g.79150983A>G | NCBI36 |
| NG_033008.1:g.28620A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000547103.7:c.792A>G MANE Select | ENSP00000447211.2:p.Gln264= | |
| ENST00000643417.1:n.1452A>G | ||
| ENST00000646859.1:c.792A>G | ENSP00000496036.1:p.Gln264= | |
| ENST00000458043.6:c.765A>G | ENSP00000400895.2:p.Gln255= | |
| ENST00000547103.5:c.765A>G | ENSP00000447211.1:p.Gln255= | |
| NM_173591.3:c.765A>G | NP_775862.3:p.Gln255= | |
| XM_005268802.2:c.816A>G | XP_005268859.1:p.Gln272= | |
| XM_011538191.1:c.816A>G | XP_011536493.1:p.Gln272= | |
| XM_011538192.1:c.663A>G | XP_011536494.1:p.Gln221= | |
| XM_011538193.1:c.450A>G | XP_011536495.1:p.Gln150= | |
| XM_005268802.3:c.816A>G | XP_005268859.1:p.Gln272= | |
| XM_011538192.2:c.663A>G | XP_011536494.1:p.Gln221= | |
| NM_001368062.1:c.765A>G | NP_001354991.1:p.Gln255= | |
| NM_001368062.3:c.792A>G | NP_001354991.2:p.Gln264= | |
| NM_001378609.3:c.792A>G MANE Select | NP_001365538.2:p.Gln264= | |
| NM_001378610.3:c.792A>G | NP_001365539.2:p.Gln264= | |
| NM_173591.7:c.792A>G | NP_775862.4:p.Gln264= |