Linked Data
ClinVar Variation Id:
46386
dbSNP Id:
rs201963060
ExAC:
5:89999487 A / G
gnomAD v2:
5-89999487-A-G
gnomAD v3:
5-90703670-A-G
gnomAD v4:
5-90703670-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90703670A>G , CM000667.2:g.90703670A>G | GRCh38 |
| NC_000005.9:g.89999487A>G , CM000667.1:g.89999487A>G | GRCh37 |
| NC_000005.8:g.90035243A>G | NCBI36 |
| NG_007083.1:g.149871A>G | |
| NG_007083.2:g.179327A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.8161A>G MANE Select | ENSP00000384582.2:p.Ile2721Val | |
| ENST00000639431.1:c.265+27461A>G | ENSP00000491057.1:n.265+27461A>G | |
| ENST00000639473.1:n.3620A>G | ||
| ENST00000640012.1:c.1968A>G | ||
| ENST00000640374.1:n.1305A>G | ||
| ENST00000640403.1:c.5452A>G | ENSP00000492531.1:p.Ile1818Val | |
| ENST00000640779.1:c.2890A>G | ||
| ENST00000405460.6:c.8161A>G | ENSP00000384582.2:p.Ile2721Val | |
| ENST00000509621.1:c.858A>G | ||
| NM_032119.3:c.8161A>G | NP_115495.3:p.Ile2721Val | |
| NR_003149.1:n.8174A>G | ||
| XM_011543675.1:c.8158A>G | XP_011541977.1:p.Ile2720Val | |
| XM_011543676.1:c.8080A>G | XP_011541978.1:p.Ile2694Val | |
| XM_011543677.1:c.5464A>G | XP_011541979.1:p.Ile1822Val | |
| XM_011543678.1:c.8161A>G | XP_011541980.1:p.Ile2721Val | |
| XM_011543679.1:c.8161A>G | XP_011541981.1:p.Ile2721Val | |
| NM_032119.4:c.8161A>G MANE Select | NP_115495.3:p.Ile2721Val | |
| XM_017009963.2:c.8161A>G | XP_016865452.1:p.Ile2721Val | |
| XM_017009964.2:c.8158A>G | XP_016865453.1:p.Ile2720Val | |
| XM_017009965.1:c.8158A>G | XP_016865454.1:p.Ile2720Val | |
| XM_017009966.2:c.8080A>G | XP_016865455.1:p.Ile2694Val | |
| XM_017009967.1:c.8065A>G | XP_016865456.1:p.Ile2689Val | |
| XM_017009968.2:c.8161A>G | XP_016865457.1:p.Ile2721Val | |
| XM_017009969.2:c.8161A>G | XP_016865458.1:p.Ile2721Val | |
| XM_017009970.2:c.8161A>G | XP_016865459.1:p.Ile2721Val | |
| XM_017009971.2:c.8161A>G | XP_016865460.1:p.Ile2721Val | |
| XM_017009972.1:c.1279A>G | XP_016865461.1:p.Ile427Val | |
| XM_017009973.1:c.1279A>G | XP_016865462.1:p.Ile427Val | |
| XM_017009974.2:c.8161A>G | XP_016865463.1:p.Ile2721Val | |
| NR_003149.2:n.8177A>G |