gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001724 (NFE)
Genomes Max Group AF
0.00001972 (NFE)
Exomes Max Group AF
0.00001543 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44253221G>A , CM000679.2:g.44253221G>A | GRCh38 |
| NC_000017.10:g.42330589G>A , CM000679.1:g.42330589G>A | GRCh37 |
| NC_000017.9:g.39686115G>A | NCBI36 |
| NG_007498.1:g.19914C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262418.12:c.2208C>T MANE Select | ENSP00000262418.6:p.Asn736= | |
| ENST00000262418.10:c.2208C>T | ENSP00000262418.6:p.Asn736= | |
| ENST00000399246.3:c.1110C>T | ENSP00000382190.3:p.Asn370= | |
| NM_000342.3:c.2208C>T | NP_000333.1:p.Asn736= | |
| XM_005257593.3:c.2013C>T | XP_005257650.1:p.Asn671= | |
| XM_011525129.1:c.2118C>T | XP_011523431.1:p.Asn706= | |
| XM_011525130.1:c.2208C>T | XP_011523432.1:p.Asn736= | |
| XM_005257593.5:c.2013C>T | XP_005257650.1:p.Asn671= | |
| XM_011525129.2:c.2118C>T | XP_011523431.1:p.Asn706= | |
| NM_000342.4:c.2208C>T MANE Select | NP_000333.1:p.Asn736= |