gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00250194 (SAS)
Genomes Max Group AF
0.00250194 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12919473A>G , CM000686.2:g.12919473A>G | GRCh38 |
| NC_000024.9:g.15031385A>G , CM000686.1:g.15031385A>G | GRCh37 |
| NC_000024.8:g.13540779A>G | NCBI36 |
| NG_012831.1:g.20367A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336079.8:c.*1351A>G MANE Select | ENSP00000336725.3:n.*1351A>G | |
| ENST00000336079.7:c.*1351A>G | ENSP00000336725.3:n.*1351A>G | |
| NM_004660.4:c.*1351A>G | NP_004651.2:n.*1351A>G | |
| XM_006724878.1:c.*1351A>G | XP_006724941.1:n.*1351A>G | |
| NM_001122665.3:c.*1351A>G | NP_001116137.1:n.*1351A>G | |
| NM_001302552.2:c.*1351A>G | NP_001289481.1:n.*1351A>G | |
| NM_001324195.1:c.*1351A>G | NP_001311124.1:n.*1351A>G | |
| NR_136716.1:n.3803A>G | ||
| NR_136717.1:n.3565A>G | ||
| NR_136718.1:n.3883A>G | ||
| NR_136719.1:n.3673A>G | ||
| NR_136720.1:n.3734A>G | ||
| NR_136721.1:n.3396A>G | ||
| NR_136722.1:n.3480A>G | ||
| NR_136723.1:n.3798A>G | ||
| NR_136724.1:n.3718A>G | ||
| XR_001756014.2:n.3498A>G | ||
| NM_004660.5:c.*1351A>G MANE Select | NP_004651.2:n.*1351A>G | |
| NM_001302552.3:c.*1351A>G | NP_001289481.1:n.*1351A>G | |
| NM_001324195.2:c.*1351A>G | NP_001311124.1:n.*1351A>G | |
| NR_136716.2:n.3721A>G | ||
| NR_136717.2:n.3483A>G | ||
| NR_136718.2:n.3801A>G | ||
| NR_136719.2:n.3591A>G | ||
| NR_136720.2:n.3652A>G | ||
| NR_136721.2:n.3386A>G |