gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.72162346 (EAS)
Genomes Max Group AF
0.70700292 (EAS)
Exomes Max Group AF
0.72162599 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.3566559A>C , CM000679.2:g.3566559A>C | GRCh38 |
| NC_000017.10:g.3469853A>C , CM000679.1:g.3469853A>C | GRCh37 |
| NC_000017.9:g.3416603A>C | NCBI36 |
| NG_029716.1:g.47853T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000572705.2:c.*256T>G MANE Select | ENSP00000459962.1:n.*256T>G | |
| ENST00000650505.1:c.*1257T>G | ENSP00000497337.1:n.*1257T>G | |
| ENST00000399756.8:c.*256T>G | ENSP00000382659.4:n.*256T>G | |
| ENST00000399759.7:c.*256T>G | ENSP00000382661.3:n.*256T>G | |
| ENST00000571088.5:c.*256T>G | ENSP00000461007.1:n.*256T>G | |
| ENST00000572705.1:c.*256T>G | ENSP00000459962.1:n.*256T>G | |
| NM_018727.5:c.*256T>G | NP_061197.4:n.*256T>G | |
| NM_080704.3:c.*256T>G | NP_542435.2:n.*256T>G | |
| NM_080705.3:c.*256T>G | NP_542436.2:n.*256T>G | |
| NM_080706.3:c.*256T>G | NP_542437.2:n.*256T>G | |
| NM_080704.4:c.*256T>G MANE Select | NP_542435.2:n.*256T>G | |
| NM_080705.4:c.*256T>G | NP_542436.2:n.*256T>G |