gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000801 (AFR)
Genomes Max Group AF
0.00000801 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61679808T>C , CM000679.2:g.61679808T>C | GRCh38 |
| NC_000017.10:g.59757169T>C , CM000679.1:g.59757169T>C | GRCh37 |
| NC_000017.9:g.57111951T>C | NCBI36 |
| NG_007409.2:g.188752A>G , LRG_300:g.188752A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682755.1:c.*3488A>G | ENSP00000507660.1:n.*3488A>G | |
| ENST00000259008.7:c.*3488A>G MANE Select | ENSP00000259008.2:n.*3488A>G | |
| NM_032043.2:c.*3488A>G , LRG_300t1:c.*3488A>G | NP_114432.2:n.*3488A>G | |
| NM_032043.3:c.*3488A>G MANE Select | NP_114432.2:n.*3488A>G |