gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00014882 (AFR)
Genomes Max Group AF
0.00014882 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.121941817A>G , CM000665.2:g.121941817A>G | GRCh38 |
| NC_000003.11:g.121660664A>G , CM000665.1:g.121660664A>G | GRCh37 |
| NC_000003.10:g.123143354A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000489711.6:c.*810A>G MANE Select | ENSP00000417085.1:n.*810A>G | |
| ENST00000489711.5:c.*810A>G | ENSP00000417085.1:n.*810A>G | |
| NM_001145998.1:c.*810A>G | NP_001139470.1:n.*810A>G | |
| NM_021082.3:c.*810A>G | NP_066568.3:n.*810A>G | |
| XM_005247722.2:c.*810A>G | XP_005247779.1:n.*810A>G | |
| XM_005247722.3:c.*810A>G | XP_005247779.1:n.*810A>G | |
| NM_021082.4:c.*810A>G MANE Select | NP_066568.3:n.*810A>G | |
| NM_001145998.2:c.*810A>G | NP_001139470.1:n.*810A>G |