Linked Data
ClinVar Variation Id:
227413
dbSNP Id:
rs759038879
ExAC:
5:90008242 A / G
gnomAD v2:
5-90008242-A-G
gnomAD v3:
5-90712425-A-G
gnomAD v4:
5-90712425-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90712425A>G , CM000667.2:g.90712425A>G | GRCh38 |
| NC_000005.9:g.90008242A>G , CM000667.1:g.90008242A>G | GRCh37 |
| NC_000005.8:g.90043998A>G | NCBI36 |
| NG_007083.1:g.158626A>G | |
| NG_007083.2:g.188082A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.9181A>G MANE Select | ENSP00000384582.2:p.Ile3061Val | |
| ENST00000639431.1:c.265+36216A>G | ENSP00000491057.1:n.265+36216A>G | |
| ENST00000639473.1:n.4640A>G | ||
| ENST00000640012.1:c.2988A>G | ||
| ENST00000640374.1:n.2325A>G | ||
| ENST00000640779.1:c.3910A>G | ||
| ENST00000405460.6:c.9181A>G | ENSP00000384582.2:p.Ile3061Val | |
| ENST00000509621.1:c.1878A>G | ||
| NM_032119.3:c.9181A>G | NP_115495.3:p.Ile3061Val | |
| NR_003149.1:n.9194A>G | ||
| XM_011543675.1:c.9178A>G | XP_011541977.1:p.Ile3060Val | |
| XM_011543676.1:c.9100A>G | XP_011541978.1:p.Ile3034Val | |
| XM_011543677.1:c.6484A>G | XP_011541979.1:p.Ile2162Val | |
| XM_011543678.1:c.9181A>G | XP_011541980.1:p.Ile3061Val | |
| XM_011543679.1:c.9181A>G | XP_011541981.1:p.Ile3061Val | |
| XR_948560.1:n.437-16T>C | ||
| NM_032119.4:c.9181A>G MANE Select | NP_115495.3:p.Ile3061Val | |
| XM_017009963.2:c.9202A>G | XP_016865452.1:p.Ile3068Val | |
| XM_017009964.2:c.9199A>G | XP_016865453.1:p.Ile3067Val | |
| XM_017009965.1:c.9199A>G | XP_016865454.1:p.Ile3067Val | |
| XM_017009966.2:c.9121A>G | XP_016865455.1:p.Ile3041Val | |
| XM_017009967.1:c.9106A>G | XP_016865456.1:p.Ile3036Val | |
| XM_017009968.2:c.9202A>G | XP_016865457.1:p.Ile3068Val | |
| XM_017009969.2:c.9202A>G | XP_016865458.1:p.Ile3068Val | |
| XM_017009970.2:c.9202A>G | XP_016865459.1:p.Ile3068Val | |
| XM_017009971.2:c.9202A>G | XP_016865460.1:p.Ile3068Val | |
| XM_017009972.1:c.2320A>G | XP_016865461.1:p.Ile774Val | |
| XM_017009973.1:c.2299A>G | XP_016865462.1:p.Ile767Val | |
| XM_017009974.2:c.9202A>G | XP_016865463.1:p.Ile3068Val | |
| NR_003149.2:n.9197A>G |