ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00010494 (AFR)
Genomes Max Group AF
0.00009567 (AFR)
Exomes Max Group AF
0.00006224 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.215012C>A , CM000671.2:g.215012C>A | GRCh38 |
| NC_000009.11:g.215012C>A , CM000671.1:g.215012C>A | GRCh37 |
| NC_000009.10:g.205012C>A | NCBI36 |
| NG_017007.1:g.5148C>A , LRG_196:g.5148C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682121.1:n.148C>A (DOCK8) | ||
| ENST00000684166.1:n.145C>A (DOCK8) | ||
| ENST00000684384.1:n.145C>A (DOCK8) | ||
| ENST00000432829.7:c.36C>A (DOCK8) MANE Select | ENSP00000394888.3:p.Phe12Leu | |
| ENST00000382387.3:c.385G>T (DOCK8-AS1) | ENSP00000371824.2:p.Glu129Ter | |
| ENST00000432829.6:c.36C>A (DOCK8) | ENSP00000394888.3:p.Phe12Leu | |
| ENST00000454469.6:n.145C>A (DOCK8) | ||
| ENST00000469197.5:c.36C>A (DOCK8) | ENSP00000418587.1:p.Phe12Leu | |
| ENST00000524396.5:c.36C>A (DOCK8) | ENSP00000436628.1:p.Phe12Leu | |
| NM_152569.2:c.385G>T (DOCK8-AS1) | NP_689782.2:p.Glu129Ter | |
| NM_203447.3:c.36C>A , LRG_196t1:c.36C>A (DOCK8) | NP_982272.2:p.Phe12Leu | |
| XM_011518045.3:c.-152+3696C>A (DOCK8) | XP_011516347.1:n.-152+3696C>A | |
| XM_017015173.1:c.-152+3696C>A (DOCK8) | XP_016870662.1:n.-152+3696C>A | |
| NR_160804.1:n.739G>T (DOCK8-AS1) | ||
| NM_203447.4:c.36C>A (DOCK8) MANE Select | NP_982272.2:p.Phe12Leu |