Linked Data
ClinVar Variation Id:
380164
dbSNP Id:
rs4678
ExAC:
6:30893941 G / A
gnomAD v2:
6-30893941-G-A
gnomAD v3:
6-30926164-G-A
gnomAD v4:
6-30926164-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.30926164G>A , CM000668.2:g.30926164G>A | GRCh38 |
| NC_000006.11:g.30893941G>A , CM000668.1:g.30893941G>A | GRCh37 |
| NC_000006.10:g.31001920G>A | NCBI36 |
| NG_034224.1:g.16957G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000541562.6:c.3146G>A | ENSP00000441000.2:p.Arg1049Gln | |
| ENST00000672801.1:c.3140G>A | ENSP00000500615.1:p.Arg1047Gln | |
| ENST00000676266.1:c.3146G>A MANE Select | ENSP00000502585.1:p.Arg1049Gln | |
| ENST00000321897.9:c.3146G>A | ENSP00000316092.5:p.Arg1049Gln | |
| ENST00000469358.5:n.3134G>A | ||
| ENST00000473916.1:n.1705G>A | ||
| ENST00000476162.5:n.1933G>A | ||
| ENST00000477288.5:n.5759G>A | ||
| ENST00000541562.5:c.3236G>A | ENSP00000441000.1:p.Arg1079Gln | |
| ENST00000542001.5:c.3140G>A | ENSP00000438200.2:p.Arg1047Gln | |
| ENST00000625423.2:c.2726G>A | ENSP00000485818.1:p.Arg909Gln | |
| NM_001167733.2:c.2726G>A | NP_001161205.1:p.Arg909Gln | |
| NM_001167734.1:c.3236G>A | NP_001161206.1:p.Arg1079Gln | |
| NM_020442.5:c.3146G>A | NP_065175.4:p.Arg1049Gln | |
| NM_001167733.3:c.2726G>A | NP_001161205.1:p.Arg909Gln | |
| NM_001167734.2:c.3236G>A | NP_001161206.1:p.Arg1079Gln | |
| NM_020442.6:c.3146G>A MANE Select | NP_065175.4:p.Arg1049Gln |