gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001772 (EAS)
Genomes Max Group AF
0.00006811 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116832942A>G , CM000673.2:g.116832942A>G | GRCh38 |
| NC_000011.9:g.116703658A>G , CM000673.1:g.116703658A>G | GRCh37 |
| NC_000011.8:g.116208868A>G | NCBI36 |
| NG_008949.1:g.8035A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227667.8:c.*58A>G MANE Select | ENSP00000227667.2:n.*58A>G | |
| ENST00000227667.7:c.*58A>G | ENSP00000227667.2:n.*58A>G | |
| ENST00000375345.3:c.*58A>G | ENSP00000364494.1:n.*58A>G | |
| ENST00000630701.1:c.412A>G | ENSP00000486182.1:n.412A>G | |
| NM_000040.1:c.*58A>G | NP_000031.1:n.*58A>G | |
| NM_000040.2:c.*58A>G | NP_000031.1:n.*58A>G | |
| NM_000040.3:c.*58A>G MANE Select | NP_000031.1:n.*58A>G |