gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00048447 (SAS)
Genomes Max Group AF
0.00007287 (SAS)
Exomes Max Group AF
0.0004998 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6302726A>G , CM000666.2:g.6302726A>G | GRCh38 |
| NC_000004.11:g.6304453A>G , CM000666.1:g.6304453A>G | GRCh37 |
| NC_000004.10:g.6355354A>G | NCBI36 |
| NG_011700.1:g.37877A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.*258A>G | ENSP00000507852.1:n.*258A>G | |
| ENST00000683395.1:c.2908A>G | ||
| ENST00000684087.1:c.*258A>G | ENSP00000506978.1:n.*258A>G | |
| ENST00000506362.2:c.*258A>G | ENSP00000424103.2:n.*258A>G | |
| ENST00000673991.1:c.*258A>G | ENSP00000501033.1:n.*258A>G | |
| ENST00000226760.5:c.*258A>G MANE Select | ENSP00000226760.1:n.*258A>G | |
| ENST00000503569.5:c.*258A>G | ENSP00000423337.1:n.*258A>G | |
| ENST00000507765.1:n.3116A>G | ||
| NM_001145853.1:c.*258A>G | NP_001139325.1:n.*258A>G | |
| NM_006005.3:c.*258A>G MANE Select | NP_005996.2:n.*258A>G | |
| XM_017008586.1:c.*258A>G | XP_016864075.1:n.*258A>G |