Linked Data
ClinVar Variation Id:
449911
dbSNP Id:
rs758472207
ExAC:
22:21350136 A / G
gnomAD v2:
22-21350136-A-G
gnomAD v4:
22-20995847-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20995847A>G , CM000684.2:g.20995847A>G | GRCh38 |
| NC_000022.10:g.21350136A>G , CM000684.1:g.21350136A>G | GRCh37 |
| NC_000022.9:g.19680136A>G | NCBI36 |
| NG_034193.1:g.18579A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700578.1:c.2044A>G | ENSP00000515073.1:p.Lys682Glu | |
| ENST00000415817.2:c.473A>G | ||
| ENST00000495142.6:n.2396A>G | ||
| ENST00000642151.1:c.1875A>G | ||
| ENST00000643578.1:n.2066A>G | ||
| ENST00000643710.1:n.905A>G | ||
| ENST00000646124.2:c.2044A>G MANE Select | ENSP00000496779.1:p.Lys682Glu | |
| ENST00000646506.1:n.1911A>G | ||
| ENST00000215739.12:c.2044A>G | ENSP00000215739.8:p.Lys682Glu | |
| ENST00000415354.6:c.473A>G | ENSP00000393765.2:n.473A>G | |
| ENST00000439171.5:c.443A>G | ||
| ENST00000452988.5:c.206A>G | ENSP00000408789.1:n.206A>G | |
| ENST00000463909.1:n.759A>G | ||
| ENST00000479606.5:n.2190A>G | ||
| ENST00000491432.5:n.465A>G | ||
| ENST00000495142.5:n.660A>G | ||
| ENST00000498649.1:n.60A>G | ||
| NM_006767.3:c.2044A>G | NP_006758.2:p.Lys682Glu | |
| NM_006767.4:c.2044A>G MANE Select | NP_006758.2:p.Lys682Glu |