gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.29346304 (NFE)
Genomes Max Group AF
0.29346304 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.182900509T>C , CM000666.2:g.182900509T>C | GRCh38 |
| NC_000004.11:g.183821662T>C , CM000666.1:g.183821662T>C | GRCh37 |
| NC_000004.10:g.184058656T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000438320.7:c.245-5904A>G MANE Select | ENSP00000398194.2:n.245-5904A>G | |
| ENST00000357067.7:c.278-5904A>G | ENSP00000349576.3:n.278-5904A>G | |
| ENST00000438320.6:c.245-5904A>G | ENSP00000398194.2:n.245-5904A>G | |
| ENST00000500813.6:c.109-5904A>G | ENSP00000425462.1:n.109-5904A>G | |
| ENST00000503182.5:c.245-5904A>G | ENSP00000422662.1:n.245-5904A>G | |
| ENST00000507543.5:c.*255-5904A>G | ENSP00000422386.1:n.*255-5904A>G | |
| ENST00000507631.5:c.109-5904A>G | ENSP00000425287.1:n.109-5904A>G | |
| ENST00000510307.5:c.245-5904A>G | ENSP00000424050.1:n.245-5904A>G | |
| ENST00000510370.5:c.245-5904A>G | ENSP00000424017.1:n.245-5904A>G | |
| ENST00000512766.5:c.245-5904A>G | ENSP00000423182.1:n.245-5904A>G | |
| ENST00000514754.5:c.245-5904A>G | ENSP00000423894.1:n.245-5904A>G | |
| NM_001012732.1:c.278-5904A>G | NP_001012750.1:n.278-5904A>G | |
| NM_001921.2:c.245-5904A>G | NP_001912.2:n.245-5904A>G | |
| XM_005262778.2:c.278-5904A>G | XP_005262835.1:n.278-5904A>G | |
| XM_005262779.2:c.245-5904A>G | XP_005262836.1:n.245-5904A>G | |
| XM_005262780.2:c.245-5904A>G | XP_005262837.1:n.245-5904A>G | |
| XM_005262781.3:c.68-5904A>G | XP_005262838.1:n.68-5904A>G | |
| XM_005262782.2:c.68-5904A>G | XP_005262839.1:n.68-5904A>G | |
| XM_006714115.2:c.68-5904A>G | XP_006714178.1:n.68-5904A>G | |
| XM_006714116.2:c.68-5904A>G | XP_006714179.1:n.68-5904A>G | |
| XM_011531674.1:c.245-5904A>G | XP_011529976.1:n.245-5904A>G | |
| XM_011531675.1:c.68-5904A>G | XP_011529977.1:n.68-5904A>G | |
| XM_011531676.1:c.68-5904A>G | XP_011529978.1:n.68-5904A>G | |
| XM_011531677.1:c.68-5904A>G | XP_011529979.1:n.68-5904A>G | |
| NM_001351743.1:c.245-5904A>G | NP_001338672.1:n.245-5904A>G | |
| NM_001351744.1:c.245-5904A>G | NP_001338673.1:n.245-5904A>G | |
| NM_001351745.1:c.245-5904A>G | NP_001338674.1:n.245-5904A>G | |
| NM_001351747.1:c.245-5904A>G | NP_001338676.1:n.245-5904A>G | |
| NM_001351748.1:c.245-5904A>G | NP_001338677.1:n.245-5904A>G | |
| NM_001351750.1:c.245-5904A>G | NP_001338679.1:n.245-5904A>G | |
| NM_001351753.1:c.245-5904A>G | NP_001338682.1:n.245-5904A>G | |
| XM_005262778.3:c.278-5904A>G | XP_005262835.1:n.278-5904A>G | |
| XM_005262781.4:c.68-5904A>G | XP_005262838.1:n.68-5904A>G | |
| XM_005262782.3:c.68-5904A>G | XP_005262839.1:n.68-5904A>G | |
| XM_006714115.3:c.68-5904A>G | XP_006714178.1:n.68-5904A>G | |
| XM_006714116.4:c.68-5904A>G | XP_006714179.1:n.68-5904A>G | |
| XM_011531674.3:c.245-5904A>G | XP_011529976.1:n.245-5904A>G | |
| XM_011531675.3:c.68-5904A>G | XP_011529977.1:n.68-5904A>G | |
| XM_011531676.3:c.68-5904A>G | XP_011529978.1:n.68-5904A>G | |
| XM_017007820.2:c.245-5904A>G | XP_016863309.1:n.245-5904A>G | |
| XM_017007822.1:c.245-5904A>G | XP_016863311.1:n.245-5904A>G | |
| XM_017007823.1:c.68-5904A>G | XP_016863312.1:n.68-5904A>G | |
| XM_017007824.1:c.68-5904A>G | XP_016863313.1:n.68-5904A>G | |
| NM_001012732.2:c.278-5904A>G | NP_001012750.1:n.278-5904A>G | |
| NM_001351743.2:c.245-5904A>G | NP_001338672.1:n.245-5904A>G | |
| NM_001351744.2:c.245-5904A>G | NP_001338673.1:n.245-5904A>G | |
| NM_001351745.2:c.245-5904A>G | NP_001338674.1:n.245-5904A>G | |
| NM_001351747.2:c.245-5904A>G | NP_001338676.1:n.245-5904A>G | |
| NM_001351748.2:c.245-5904A>G | NP_001338677.1:n.245-5904A>G | |
| NM_001351750.2:c.245-5904A>G | NP_001338679.1:n.245-5904A>G | |
| NM_001351753.2:c.245-5904A>G | NP_001338682.1:n.245-5904A>G | |
| NM_001921.3:c.245-5904A>G MANE Select | NP_001912.2:n.245-5904A>G |