Linked Data
ClinVar Variation Id:
187084
dbSNP Id:
rs786203457
gnomAD v2:
1-161326605-A-G
gnomAD v3:
1-161356815-A-G
gnomAD v4:
1-161356815-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161356815A>G , CM000663.2:g.161356815A>G | GRCh38 |
| NC_000001.10:g.161326605A>G , CM000663.1:g.161326605A>G | GRCh37 |
| NC_000001.9:g.159593229A>G | NCBI36 |
| NG_012767.1:g.47440A>G , LRG_317:g.47440A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000470743.5:c.*381A>G | ENSP00000482902.2:n.*381A>G | |
| ENST00000367975.7:c.380A>G MANE Select | ENSP00000356953.3:p.His127Arg | |
| ENST00000342751.8:c.242-5514A>G | ENSP00000356952.3:n.242-5514A>G | |
| ENST00000367975.6:c.380A>G | ENSP00000356953.2:p.His127Arg | |
| ENST00000392169.6:c.221A>G | ENSP00000376009.2:p.His74Arg | |
| ENST00000432287.6:c.278A>G | ENSP00000390558.2:p.His93Arg | |
| ENST00000470743.4:c.478A>G | ||
| ENST00000504963.5:c.*203A>G | ENSP00000423929.1:n.*203A>G | |
| ENST00000513009.5:c.140-5514A>G | ENSP00000423260.1:n.140-5514A>G | |
| NM_001035511.1:c.242-5514A>G | NP_001030588.1:n.242-5514A>G | |
| NM_001035512.1:c.278A>G | NP_001030589.1:p.His93Arg | |
| NM_001035513.1:c.221A>G | NP_001030590.1:p.His74Arg | |
| NM_001278172.1:c.140-5514A>G | NP_001265101.1:n.140-5514A>G | |
| NM_003001.3:c.380A>G , LRG_317t1:c.380A>G | NP_002992.1:p.His127Arg | |
| NR_103459.1:n.437A>G | ||
| NM_001035511.2:c.242-5514A>G | NP_001030588.1:n.242-5514A>G | |
| NM_001035512.2:c.278A>G | NP_001030589.1:p.His93Arg | |
| NM_001035513.2:c.221A>G | NP_001030590.1:p.His74Arg | |
| NM_001278172.2:c.140-5514A>G | NP_001265101.1:n.140-5514A>G | |
| NM_003001.5:c.380A>G MANE Select | NP_002992.1:p.His127Arg | |
| NR_103459.2:n.432A>G |