Linked Data
ClinVar Variation Id:
163593
dbSNP Id:
rs727503078
ExAC:
5:90021378 A / G
gnomAD v2:
5-90021378-A-G
gnomAD v3:
5-90725561-A-G
gnomAD v4:
5-90725561-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90725561A>G , CM000667.2:g.90725561A>G | GRCh38 |
| NC_000005.9:g.90021378A>G , CM000667.1:g.90021378A>G | GRCh37 |
| NC_000005.8:g.90057134A>G | NCBI36 |
| NG_007083.1:g.171762A>G | |
| NG_007083.2:g.201218A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000405460.9:c.10066A>G MANE Select | ENSP00000384582.2:p.Ile3356Val | |
| ENST00000639431.1:c.265+49352A>G | ENSP00000491057.1:n.265+49352A>G | |
| ENST00000640374.1:n.3210A>G | ||
| ENST00000640464.1:n.485A>G | ||
| ENST00000405460.6:c.10066A>G | ENSP00000384582.2:p.Ile3356Val | |
| ENST00000509621.1:c.2763A>G | ||
| NM_032119.3:c.10066A>G | NP_115495.3:p.Ile3356Val | |
| NR_003149.1:n.10079A>G | ||
| XM_011543675.1:c.10063A>G | XP_011541977.1:p.Ile3355Val | |
| XM_011543676.1:c.9985A>G | XP_011541978.1:p.Ile3329Val | |
| XM_011543677.1:c.7369A>G | XP_011541979.1:p.Ile2457Val | |
| XM_011543678.1:c.10066A>G | XP_011541980.1:p.Ile3356Val | |
| XM_011543679.1:c.10066A>G | XP_011541981.1:p.Ile3356Val | |
| XR_948560.1:n.272-9752T>C | ||
| NM_032119.4:c.10066A>G MANE Select | NP_115495.3:p.Ile3356Val | |
| XM_017009963.2:c.10087A>G | XP_016865452.1:p.Ile3363Val | |
| XM_017009964.2:c.10084A>G | XP_016865453.1:p.Ile3362Val | |
| XM_017009965.1:c.10084A>G | XP_016865454.1:p.Ile3362Val | |
| XM_017009966.2:c.10006A>G | XP_016865455.1:p.Ile3336Val | |
| XM_017009967.1:c.9991A>G | XP_016865456.1:p.Ile3331Val | |
| XM_017009968.2:c.10087A>G | XP_016865457.1:p.Ile3363Val | |
| XM_017009969.2:c.10087A>G | XP_016865458.1:p.Ile3363Val | |
| XM_017009970.2:c.10087A>G | XP_016865459.1:p.Ile3363Val | |
| XM_017009971.2:c.10087A>G | XP_016865460.1:p.Ile3363Val | |
| XM_017009972.1:c.3205A>G | XP_016865461.1:p.Ile1069Val | |
| XM_017009973.1:c.3184A>G | XP_016865462.1:p.Ile1062Val | |
| XM_017009974.2:c.10087A>G | XP_016865463.1:p.Ile3363Val | |
| XR_001742802.1:n.2523-9752T>C | ||
| NR_003149.2:n.10082A>G |