Linked Data
ClinVar Variation Id:
46393
dbSNP Id:
rs41308297
ExAC:
5:90002053 A / G
gnomAD v2:
5-90002053-A-G
gnomAD v3:
5-90706236-A-G
gnomAD v4:
5-90706236-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90706236A>G , CM000667.2:g.90706236A>G | GRCh38 |
| NC_000005.9:g.90002053A>G , CM000667.1:g.90002053A>G | GRCh37 |
| NC_000005.8:g.90037809A>G | NCBI36 |
| NG_007083.1:g.152437A>G | |
| NG_007083.2:g.181893A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.8572A>G MANE Select | ENSP00000384582.2:p.Ile2858Val | |
| ENST00000639431.1:c.265+30027A>G | ENSP00000491057.1:n.265+30027A>G | |
| ENST00000639473.1:n.4031A>G | ||
| ENST00000640012.1:c.2379A>G | ||
| ENST00000640374.1:n.1716A>G | ||
| ENST00000640403.1:c.5863A>G | ENSP00000492531.1:p.Ile1955Val | |
| ENST00000640779.1:c.3301A>G | ||
| ENST00000405460.6:c.8572A>G | ENSP00000384582.2:p.Ile2858Val | |
| ENST00000509621.1:c.1269A>G | ||
| NM_032119.3:c.8572A>G | NP_115495.3:p.Ile2858Val | |
| NR_003149.1:n.8585A>G | ||
| XM_011543675.1:c.8569A>G | XP_011541977.1:p.Ile2857Val | |
| XM_011543676.1:c.8491A>G | XP_011541978.1:p.Ile2831Val | |
| XM_011543677.1:c.5875A>G | XP_011541979.1:p.Ile1959Val | |
| XM_011543678.1:c.8572A>G | XP_011541980.1:p.Ile2858Val | |
| XM_011543679.1:c.8572A>G | XP_011541981.1:p.Ile2858Val | |
| NM_032119.4:c.8572A>G MANE Select | NP_115495.3:p.Ile2858Val | |
| XM_017009963.2:c.8593A>G | XP_016865452.1:p.Ile2865Val | |
| XM_017009964.2:c.8590A>G | XP_016865453.1:p.Ile2864Val | |
| XM_017009965.1:c.8590A>G | XP_016865454.1:p.Ile2864Val | |
| XM_017009966.2:c.8512A>G | XP_016865455.1:p.Ile2838Val | |
| XM_017009967.1:c.8497A>G | XP_016865456.1:p.Ile2833Val | |
| XM_017009968.2:c.8593A>G | XP_016865457.1:p.Ile2865Val | |
| XM_017009969.2:c.8593A>G | XP_016865458.1:p.Ile2865Val | |
| XM_017009970.2:c.8593A>G | XP_016865459.1:p.Ile2865Val | |
| XM_017009971.2:c.8593A>G | XP_016865460.1:p.Ile2865Val | |
| XM_017009972.1:c.1711A>G | XP_016865461.1:p.Ile571Val | |
| XM_017009973.1:c.1690A>G | XP_016865462.1:p.Ile564Val | |
| XM_017009974.2:c.8593A>G | XP_016865463.1:p.Ile2865Val | |
| NR_003149.2:n.8588A>G |