Linked Data
dbSNP Id:
rs921856495
gnomAD v2:
11-108093579-C-G
gnomAD v3:
11-108222852-C-G
gnomAD v4:
11-108222852-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108222852C>G , CM000673.2:g.108222852C>G | GRCh38 |
| NC_000011.9:g.108093579C>G , CM000673.1:g.108093579C>G | GRCh37 |
| NC_000011.8:g.107598789C>G | NCBI36 |
| NG_009830.1:g.5021C>G , LRG_135:g.5021C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.-453C>G | ENSP00000388058.2:n.-453C>G | |
| ENST00000683914.2:c.-365C>G | ENSP00000507649.1:n.-365C>G | |
| ENST00000278616.8:c.-365C>G | ENSP00000278616.4:n.-365C>G | |
| ENST00000527805.5:c.-365C>G | ENSP00000435747.1:n.-365C>G | |
| NM_000051.3:c.-365C>G , LRG_135t1:c.-365C>G | NP_000042.3:n.-365C>G | |
| XM_011542843.1:c.-365C>G | XP_011541145.1:n.-365C>G | |
| XM_011542846.1:c.-365C>G | XP_011541148.1:n.-365C>G | |
| NM_001351834.1:c.-453C>G | NP_001338763.1:n.-453C>G | |
| NM_001351835.1:c.-365C>G | NP_001338764.1:n.-365C>G | |
| XM_011542842.3:c.-365C>G | XP_011541144.1:n.-365C>G | |
| XM_011542843.2:c.-365C>G | XP_011541145.1:n.-365C>G | |
| XM_017017791.1:c.-365C>G | XP_016873280.1:n.-365C>G | |
| XM_017017792.2:c.-365C>G | XP_016873281.1:n.-365C>G | |
| XR_002957150.1:n.369C>G |