gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000359 (NFE)
Exomes Max Group AF
0.00000309 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154598557G>T , CM000663.2:g.154598557G>T | GRCh38 |
| NC_000001.10:g.154571033G>T , CM000663.1:g.154571033G>T | GRCh37 |
| NC_000001.9:g.152837657G>T | NCBI36 |
| NG_011844.1:g.34405C>A | |
| NG_011844.2:g.38004C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649042.2:c.1524C>A | ENSP00000497790.2:n.1524C>A | |
| ENST00000649724.2:c.1660C>A | ENSP00000497932.2:p.Arg554= | |
| ENST00000680270.2:c.1513C>A | ENSP00000505532.2:p.Arg505= | |
| ENST00000681056.2:c.1282C>A | ENSP00000506234.2:p.Arg428= | |
| ENST00000368471.8:c.745C>A | ENSP00000357456.3:p.Arg249= | |
| ENST00000368474.9:c.1630C>A MANE Select | ENSP00000357459.4:p.Arg544= | |
| ENST00000529168.2:c.1630C>A | ENSP00000431794.2:p.Arg544= | |
| ENST00000647682.2:n.1360C>A | ||
| ENST00000648231.2:c.745C>A | ENSP00000497555.1:p.Arg249= | |
| ENST00000648311.1:c.745C>A | ENSP00000498137.1:p.Arg249= | |
| ENST00000648714.2:c.1630C>A | ENSP00000497434.2:p.Arg544= | |
| ENST00000648871.1:c.745C>A | ENSP00000497793.1:p.Arg249= | |
| ENST00000649021.1:n.1666C>A | ||
| ENST00000649022.2:c.745C>A | ENSP00000496896.2:p.Arg249= | |
| ENST00000649042.1:c.745C>A | ENSP00000497790.1:p.Arg249= | |
| ENST00000649408.2:c.1630C>A | ENSP00000497386.2:p.Arg544= | |
| ENST00000649724.1:c.745C>A | ENSP00000497932.1:p.Arg249= | |
| ENST00000649749.1:c.745C>A | ENSP00000497210.1:p.Arg249= | |
| ENST00000679375.1:c.732C>A | ENSP00000505887.1:p.Ala244= | |
| ENST00000679465.1:n.1828C>A | ||
| ENST00000679805.1:n.1666C>A | ||
| ENST00000679899.1:c.745C>A | ENSP00000505996.1:p.Arg249= | |
| ENST00000680270.1:c.745C>A | ENSP00000505532.1:p.Arg249= | |
| ENST00000680305.1:c.1630C>A | ENSP00000506312.1:p.Arg544= | |
| ENST00000681056.1:c.745C>A | ENSP00000506234.1:p.Arg249= | |
| ENST00000681235.1:c.*1230C>A | ENSP00000506606.1:n.*1230C>A | |
| ENST00000681429.1:n.890C>A | ||
| ENST00000681683.1:c.745C>A | ENSP00000506666.1:p.Arg249= | |
| ENST00000681786.1:n.1828C>A | ||
| ENST00000681901.1:c.*1230C>A | ENSP00000504883.1:n.*1230C>A | |
| ENST00000368471.7:c.745C>A | ENSP00000357456.3:p.Arg249= | |
| ENST00000368474.8:c.1630C>A | ENSP00000357459.4:p.Arg544= | |
| ENST00000529168.1:c.1615C>A | ENSP00000431794.1:p.Arg539= | |
| NM_001025107.2:c.745C>A | NP_001020278.1:p.Arg249= | |
| NM_001111.4:c.1630C>A | NP_001102.2:p.Arg544= | |
| NM_001193495.1:c.745C>A | NP_001180424.1:p.Arg249= | |
| NM_015840.3:c.1630C>A | NP_056655.2:p.Arg544= | |
| NM_015841.3:c.1630C>A | NP_056656.2:p.Arg544= | |
| XM_006711109.1:c.1660C>A | XP_006711172.1:p.Arg554= | |
| XM_006711111.2:c.745C>A | XP_006711174.1:p.Arg249= | |
| XM_006711112.1:c.745C>A | XP_006711175.1:p.Arg249= | |
| XM_006711113.1:c.745C>A | XP_006711176.1:p.Arg249= | |
| XM_011509060.1:c.1759C>A | XP_011507362.1:p.Arg587= | |
| XM_011509061.1:c.1759C>A | XP_011507363.1:p.Arg587= | |
| XM_011509062.1:c.1648C>A | XP_011507364.1:p.Arg550= | |
| NM_001025107.3:c.745C>A | NP_001020278.1:p.Arg249= | |
| NM_001111.5:c.1630C>A MANE Select | NP_001102.3:p.Arg544= | |
| NM_001193495.2:c.745C>A | NP_001180424.1:p.Arg249= | |
| NM_001365045.1:c.1657C>A | NP_001351974.1:p.Arg553= | |
| NM_001365046.1:c.745C>A | NP_001351975.1:p.Arg249= | |
| NM_001365047.1:c.745C>A | NP_001351976.1:p.Arg249= | |
| NM_001365048.1:c.745C>A | NP_001351977.1:p.Arg249= | |
| NM_001365049.1:c.745C>A | NP_001351978.1:p.Arg249= | |
| NM_015840.4:c.1630C>A | NP_056655.3:p.Arg544= | |
| NM_015841.4:c.1630C>A | NP_056656.3:p.Arg544= | |
| XM_006711113.2:c.745C>A | XP_006711176.1:p.Arg249= | |
| XM_011509061.2:c.745C>A | XP_011507363.2:p.Arg249= | |
| XM_024449674.1:c.1759C>A | XP_024305442.1:p.Arg587= |