Linked Data
ClinVar Variation Id:
773467
ClinVar RCV Id:
RCV000953224
dbSNP Id:
rs111739077
ExAC:
6:20546697 G / A
gnomAD v2:
6-20546697-G-A
gnomAD v3:
6-20546466-G-A
gnomAD v4:
6-20546466-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.20546466G>A , CM000668.2:g.20546466G>A | GRCh38 |
| NC_000006.11:g.20546697G>A , CM000668.1:g.20546697G>A | GRCh37 |
| NC_000006.10:g.20654676G>A | NCBI36 |
| NG_021195.1:g.17010G>A | |
| NG_021195.2:g.17010G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000274695.8:c.116G>A MANE Select | ENSP00000274695.4:p.Arg39Gln | |
| ENST00000378610.1:c.116G>A | ENSP00000367873.1:p.Arg39Gln | |
| ENST00000613575.4:c.116G>A | ENSP00000481755.1:p.Arg39Gln | |
| NM_017774.3:c.116G>A MANE Select | NP_060244.2:p.Arg39Gln | |
| XM_006715128.2:c.116G>A | XP_006715191.1:p.Arg39Gln | |
| XM_011514718.1:c.116G>A | XP_011513020.1:p.Arg39Gln | |
| XM_011514719.1:c.116G>A | XP_011513021.1:p.Arg39Gln | |
| XR_926265.1:n.283G>A | ||
| XR_926266.1:n.396G>A | ||
| XR_926267.1:n.283G>A | ||
| XM_011514719.2:c.116G>A | XP_011513021.1:p.Arg39Gln | |
| XM_017010986.1:c.116G>A | XP_016866475.1:p.Arg39Gln | |
| XM_017010987.1:c.-639G>A | XP_016866476.1:n.-639G>A | |
| XM_024446481.1:c.116G>A | XP_024302249.1:p.Arg39Gln | |
| XR_001743495.2:n.288G>A | ||
| XR_001743496.2:n.683G>A | ||
| XR_001743500.1:n.283G>A | ||
| XR_001743501.1:n.283G>A | ||
| XR_926265.2:n.283G>A | ||
| XR_926266.2:n.396G>A | ||
| XR_926267.2:n.283G>A |