ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0031573 (EAS)
Genomes Max Group AF
0.00482766 (EAS)
Exomes Max Group AF
0.00277094 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.31529325C>T , CM000664.2:g.31529325C>T | GRCh38 |
| NC_000002.11:g.31754395C>T , CM000664.1:g.31754395C>T | GRCh37 |
| NC_000002.10:g.31607899C>T | NCBI36 |
| NG_008365.1:g.56647G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622030.2:c.680G>A MANE Select | ENSP00000477587.1:p.Arg227Gln | |
| ENST00000622030.1:c.680G>A | ENSP00000477587.1:p.Arg227Gln | |
| NM_000348.3:c.680G>A | NP_000339.2:p.Arg227Gln | |
| XM_011533069.1:c.458G>A | XP_011531371.1:p.Arg153Gln | |
| XM_011533070.1:c.425G>A | XP_011531372.1:p.Arg142Gln | |
| XM_011533071.1:c.425G>A | XP_011531373.1:p.Arg142Gln | |
| XM_011533072.1:c.425G>A | XP_011531374.1:p.Arg142Gln | |
| XM_011533069.2:c.458G>A | XP_011531371.1:p.Arg153Gln | |
| XM_011533072.2:c.425G>A | XP_011531374.1:p.Arg142Gln | |
| NM_000348.4:c.680G>A MANE Select | NP_000339.2:p.Arg227Gln |