ClinVar Variation:
COSMIC:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00012018 (EAS)
Genomes Max Group AF
0.00015691 (EAS)
Exomes Max Group AF
0.00008199 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10149937G>A , CM000665.2:g.10149937G>A | GRCh38 |
| NC_000003.11:g.10191621G>A , CM000665.1:g.10191621G>A | GRCh37 |
| NC_000003.10:g.10166621G>A | NCBI36 |
| NG_008212.3:g.13303G>A , LRG_322:g.13303G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696142.1:c.*291G>A | ENSP00000512434.1:n.*291G>A | |
| ENST00000696143.1:c.750G>A | ENSP00000512435.1:n.750G>A | |
| ENST00000696153.1:c.725G>A | ENSP00000512444.1:p.Arg242His | |
| ENST00000256474.3:c.614G>A MANE Select | ENSP00000256474.3:p.Arg205His | |
| ENST00000256474.2:c.614G>A | ENSP00000256474.2:p.Arg205His | |
| ENST00000345392.2:c.491G>A | ENSP00000344757.2:p.Arg164His | |
| ENST00000477538.1:n.750G>A | ||
| NM_000551.3:c.614G>A , LRG_322t1:c.614G>A | NP_000542.1:p.Arg205His | |
| NM_198156.2:c.491G>A | NP_937799.1:p.Arg164His | |
| NM_001354723.1:c.*168G>A | NP_001341652.1:n.*168G>A | |
| NM_000551.4:c.614G>A MANE Select | NP_000542.1:p.Arg205His | |
| NM_001354723.2:c.*168G>A | NP_001341652.1:n.*168G>A | |
| NM_198156.3:c.491G>A | NP_937799.1:p.Arg164His |