Linked Data
ClinVar Variation Id:
384896
dbSNP Id:
rs753215803
ExAC:
9:214988 G / T
gnomAD v2:
9-214988-G-T
gnomAD v3:
9-214988-G-T
gnomAD v4:
9-214988-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.214988G>T , CM000671.2:g.214988G>T | GRCh38 |
| NC_000009.11:g.214988G>T , CM000671.1:g.214988G>T | GRCh37 |
| NC_000009.10:g.204988G>T | NCBI36 |
| NG_017007.1:g.5124G>T , LRG_196:g.5124G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682121.1:n.124G>T (DOCK8) | ||
| ENST00000684166.1:n.121G>T (DOCK8) | ||
| ENST00000684384.1:n.121G>T (DOCK8) | ||
| ENST00000432829.7:c.12G>T (DOCK8) MANE Select | ENSP00000394888.3:p.Leu4= | |
| ENST00000382387.3:c.409C>A (DOCK8-AS1) | ENSP00000371824.2:p.Gln137Lys | |
| ENST00000432829.6:c.12G>T (DOCK8) | ENSP00000394888.3:p.Leu4= | |
| ENST00000454469.6:n.121G>T (DOCK8) | ||
| ENST00000469197.5:c.12G>T (DOCK8) | ENSP00000418587.1:p.Leu4= | |
| ENST00000524396.5:c.12G>T (DOCK8) | ENSP00000436628.1:p.Leu4= | |
| NM_152569.2:c.409C>A (DOCK8-AS1) | NP_689782.2:p.Gln137Lys | |
| NM_203447.3:c.12G>T , LRG_196t1:c.12G>T (DOCK8) | NP_982272.2:p.Leu4= | |
| XM_011518045.3:c.-152+3672G>T (DOCK8) | XP_011516347.1:n.-152+3672G>T | |
| XM_017015173.1:c.-152+3672G>T (DOCK8) | XP_016870662.1:n.-152+3672G>T | |
| NR_160804.1:n.763C>A (DOCK8-AS1) | ||
| NM_203447.4:c.12G>T (DOCK8) MANE Select | NP_982272.2:p.Leu4= |