gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.39816895 (NFE)
Genomes Max Group AF
0.38405096 (NFE)
Exomes Max Group AF
0.3990823 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.428121C>A , CM000667.2:g.428121C>A | GRCh38 |
| NC_000005.9:g.428236C>A , CM000667.1:g.428236C>A | GRCh37 |
| NC_000005.8:g.481236C>A | NCBI36 |
| NG_029834.1:g.128946C>A | |
| NG_029834.2:g.128946C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684583.1:c.908+115C>A (AHRR) MANE Select | ENSP00000507476.1:n.908+115C>A | |
| ENST00000316418.10:c.908+115C>A (AHRR) | ENSP00000323816.6:n.908+115C>A | |
| ENST00000505113.6:c.*904+115C>A (PDCD6-AHRR) | ENSP00000424601.2:n.*904+115C>A | |
| ENST00000512529.6:n.667+115C>A (PDCD6-AHRR) | ||
| ENST00000675395.1:c.*958+115C>A (PDCD6-AHRR) | ENSP00000502570.1:n.*958+115C>A | |
| ENST00000316418.9:c.974+115C>A (AHRR) | ENSP00000323816.5:n.974+115C>A | |
| ENST00000505113.5:c.920+115C>A (AHRR) | ENSP00000424601.1:n.920+115C>A | |
| ENST00000506456.1:c.488+115C>A (AHRR) | ENSP00000426932.1:n.488+115C>A | |
| ENST00000511487.1:c.89+115C>A (AHRR) | ENSP00000426076.1:n.89+115C>A | |
| ENST00000512529.5:c.458+115C>A (AHRR) | ENSP00000424880.1:n.458+115C>A | |
| NM_001242412.1:c.920+115C>A (AHRR) | NP_001229341.1:n.920+115C>A | |
| NM_020731.4:c.974+115C>A (AHRR) | NP_065782.2:n.974+115C>A | |
| NM_001377236.1:c.908+115C>A (AHRR) MANE Select | NP_001364165.1:n.908+115C>A | |
| NM_001377239.1:c.908+115C>A (AHRR) | NP_001364168.1:n.908+115C>A | |
| NR_165159.2:n.1255+115C>A (PDCD6-AHRR) | ||
| NR_165163.2:n.1201+115C>A (PDCD6-AHRR) |