gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.39242313 (AFR)
Genomes Max Group AF
0.39242313 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.116508316T>G , CM000669.2:g.116508316T>G | GRCh38 |
| NC_000007.13:g.116148370T>G , CM000669.1:g.116148370T>G | GRCh37 |
| NC_000007.12:g.115935606T>G | NCBI36 |
| NG_029920.1:g.13716T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222693.5:c.*2195T>G MANE Select | ENSP00000222693.4:n.*2195T>G | |
| ENST00000222693.4:c.*2195T>G | ENSP00000222693.4:n.*2195T>G | |
| NM_001206747.1:c.*2195T>G | NP_001193676.1:n.*2195T>G | |
| NM_001206748.1:c.*2195T>G | NP_001193677.1:n.*2195T>G | |
| NM_001233.4:c.*2195T>G | NP_001224.1:n.*2195T>G | |
| NM_198212.2:c.*2157T>G | NP_937855.1:n.*2157T>G | |
| NM_001233.5:c.*2195T>G MANE Select | NP_001224.1:n.*2195T>G | |
| NM_001206747.2:c.*2195T>G | NP_001193676.1:n.*2195T>G | |
| NM_001206748.2:c.*2195T>G | NP_001193677.1:n.*2195T>G | |
| NM_198212.3:c.*2157T>G | NP_937855.1:n.*2157T>G |