gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.8584997 (EAS)
Genomes Max Group AF
0.8584997 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.22125352T>C , CM000663.2:g.22125352T>C | GRCh38 |
| NC_000001.10:g.22451845T>C , CM000663.1:g.22451845T>C | GRCh37 |
| NC_000001.9:g.22324432T>C | NCBI36 |
| NG_008974.1:g.22675A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290167.11:c.314-3776A>G MANE Select | ENSP00000290167.5:n.314-3776A>G | |
| ENST00000290167.10:c.314-3776A>G | ENSP00000290167.5:n.314-3776A>G | |
| NM_030761.4:c.314-3776A>G | NP_110388.2:n.314-3776A>G | |
| XM_011541597.1:c.380-3776A>G | XP_011539899.1:n.380-3776A>G | |
| XM_011541598.1:c.149-3776A>G | XP_011539900.1:n.149-3776A>G | |
| XM_011541597.2:c.380-3776A>G | XP_011539899.1:n.380-3776A>G | |
| XM_011541598.2:c.149-3776A>G | XP_011539900.1:n.149-3776A>G | |
| NM_030761.5:c.314-3776A>G MANE Select | NP_110388.2:n.314-3776A>G |