Linked Data
ClinVar Variation Id:
183693
dbSNP Id:
rs786201037
gnomAD v4:
19-7556710-G-A
PubMed:
PMID:25480986
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7556710G>A , CM000681.2:g.7556710G>A | GRCh38 |
| NC_000019.9:g.7621596G>A , CM000681.1:g.7621596G>A | GRCh37 |
| NC_000019.8:g.7527596G>A | NCBI36 |
| NG_013374.1:g.27559G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000600737.6:c.3266G>A MANE Select | ENSP00000473211.1:p.Arg1089Gln | |
| ENST00000646984.1:c.437G>A | ENSP00000496219.1:p.Arg146Gln | |
| ENST00000221249.10:c.3152G>A | ENSP00000221249.5:p.Arg1051Gln | |
| ENST00000414982.7:c.3296G>A | ENSP00000407509.2:p.Arg1099Gln | |
| ENST00000450331.7:c.3152G>A | ENSP00000394348.2:p.Arg1051Gln | |
| ENST00000545201.6:c.3071G>A | ENSP00000443323.1:p.Arg1024Gln | |
| ENST00000595352.1:n.197G>A | ||
| ENST00000600737.5:c.3266G>A | ENSP00000473211.1:p.Arg1089Gln | |
| NM_001166111.1:c.3296G>A | NP_001159583.1:p.Arg1099Gln | |
| NM_001166112.1:c.3071G>A | NP_001159584.1:p.Arg1024Gln | |
| NM_001166113.1:c.3152G>A | NP_001159585.1:p.Arg1051Gln | |
| NM_001166114.1:c.3266G>A | NP_001159586.1:p.Arg1089Gln | |
| NM_006702.4:c.3152G>A | NP_006693.3:p.Arg1051Gln | |
| NM_001166111.2:c.3296G>A | NP_001159583.1:p.Arg1099Gln | |
| NM_001166114.2:c.3266G>A MANE Select | NP_001159586.1:p.Arg1089Gln | |
| NM_006702.5:c.3152G>A | NP_006693.3:p.Arg1051Gln | |
| NM_001166112.2:c.3071G>A | NP_001159584.1:p.Arg1024Gln |