gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.62058481 (NFE)
Genomes Max Group AF
0.62132517 (NFE)
Exomes Max Group AF
0.56238887 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.308981A>C , CM000667.2:g.308981A>C | GRCh38 |
| NC_000005.9:g.309096A>C , CM000667.1:g.309096A>C | GRCh37 |
| NC_000005.8:g.362096A>C | NCBI36 |
| NG_029834.1:g.9806A>C | |
| NG_029834.2:g.9806A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264933.9:c.367+2221A>C (PDCD6) MANE Select | ENSP00000264933.4:n.367+2221A>C | |
| ENST00000505113.6:c.208+4760A>C (PDCD6-AHRR) | ENSP00000424601.2:n.208+4760A>C | |
| ENST00000512529.6:n.38+4760A>C (PDCD6-AHRR) | ||
| ENST00000651543.1:c.*1737+2221A>C | ENSP00000499215.1:n.*1737+2221A>C | |
| ENST00000675395.1:c.208+4760A>C (PDCD6-AHRR) | ENSP00000502570.1:n.208+4760A>C | |
| ENST00000264933.8:c.367+2221A>C (PDCD6) | ENSP00000264933.4:n.367+2221A>C | |
| ENST00000316418.9:c.2+4760A>C (AHRR) | ENSP00000323816.5:n.2+4760A>C | |
| ENST00000505113.5:c.2+4760A>C (AHRR) | ENSP00000424601.1:n.2+4760A>C | |
| ENST00000505221.5:c.208+4760A>C (PDCD6) | ENSP00000422085.1:n.208+4760A>C | |
| ENST00000505526.1:c.*185+2221A>C (PDCD6) | ENSP00000424201.1:n.*185+2221A>C | |
| ENST00000506909.5:c.208+4760A>C (PDCD6) | ENSP00000426003.1:n.208+4760A>C | |
| ENST00000507473.1:c.107-2312A>C (PDCD6) | ENSP00000425370.1:n.107-2312A>C | |
| ENST00000507528.5:c.361+2227A>C (PDCD6) | ENSP00000423815.1:n.361+2227A>C | |
| ENST00000511482.1:n.80+2221A>C (PDCD6) | ||
| ENST00000512466.1:n.785A>C (PDCD6) | ||
| ENST00000512529.5:c.-172+4760A>C (AHRR) | ENSP00000424880.1:n.-172+4760A>C | |
| ENST00000513582.5:n.2837+2227A>C (PDCD6) | ||
| ENST00000614778.4:c.157+2221A>C (PDCD6) | ENSP00000485024.1:n.157+2221A>C | |
| ENST00000618970.4:c.164-2312A>C (PDCD6) | ENSP00000482332.1:n.164-2312A>C | |
| ENST00000628729.2:c.*185+2221A>C (PDCD6) | ENSP00000485941.1:n.*185+2221A>C | |
| NM_001242412.1:c.2+4760A>C (AHRR) | NP_001229341.1:n.2+4760A>C | |
| NM_001267556.1:c.361+2227A>C (PDCD6) | NP_001254485.1:n.361+2227A>C | |
| NM_001267557.1:c.164-2312A>C (PDCD6) | NP_001254486.1:n.164-2312A>C | |
| NM_001267558.1:c.157+2221A>C (PDCD6) | NP_001254487.1:n.157+2221A>C | |
| NM_001267559.1:c.208+4760A>C (PDCD6) | NP_001254488.1:n.208+4760A>C | |
| NM_013232.3:c.367+2221A>C (PDCD6) | NP_037364.1:n.367+2221A>C | |
| NM_020731.4:c.2+4760A>C (AHRR) | NP_065782.2:n.2+4760A>C | |
| NM_013232.4:c.367+2221A>C (PDCD6) MANE Select | NP_037364.1:n.367+2221A>C | |
| NM_001267556.2:c.361+2227A>C (PDCD6) | NP_001254485.1:n.361+2227A>C | |
| NM_001267559.2:c.208+4760A>C (PDCD6) | NP_001254488.1:n.208+4760A>C | |
| NR_165159.2:n.283+4760A>C (PDCD6-AHRR) | ||
| NR_165163.2:n.283+4760A>C (PDCD6-AHRR) | ||
| NM_001267557.2:c.164-2312A>C (PDCD6) | NP_001254486.1:n.164-2312A>C | |
| NM_001267558.2:c.157+2221A>C (PDCD6) | NP_001254487.1:n.157+2221A>C |