Linked Data
ClinVar Variation Id:
449395
dbSNP Id:
rs765672841
ExAC:
5:90085621 A / G
gnomAD v2:
5-90085621-A-G
gnomAD v3:
5-90789804-A-G
gnomAD v4:
5-90789804-A-G
COSMIC:
COSM3140862
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90789804A>G , CM000667.2:g.90789804A>G | GRCh38 |
| NC_000005.9:g.90085621A>G , CM000667.1:g.90085621A>G | GRCh37 |
| NC_000005.8:g.90121377A>G | NCBI36 |
| NG_007083.1:g.236005A>G | |
| NG_007083.2:g.265461A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.13996A>G MANE Select | ENSP00000384582.2:p.Ile4666Val | |
| ENST00000425867.3:c.2950A>G | ENSP00000392618.3:p.Ile984Val | |
| ENST00000638510.1:n.1263A>G | ||
| ENST00000638975.1:c.625A>G | ENSP00000492630.1:p.Ile209Val | |
| ENST00000639431.1:c.265+113595A>G | ENSP00000491057.1:n.265+113595A>G | |
| ENST00000640407.1:c.406A>G | ENSP00000491425.1:p.Ile136Val | |
| ENST00000405460.6:c.13996A>G | ENSP00000384582.2:p.Ile4666Val | |
| ENST00000425867.2:c.979A>G | ENSP00000392618.2:p.Ile327Val | |
| NM_032119.3:c.13996A>G | NP_115495.3:p.Ile4666Val | |
| NR_003149.1:n.14009A>G | ||
| XM_011543675.1:c.13993A>G | XP_011541977.1:p.Ile4665Val | |
| XM_011543676.1:c.13915A>G | XP_011541978.1:p.Ile4639Val | |
| XM_011543677.1:c.11299A>G | XP_011541979.1:p.Ile3767Val | |
| XM_011543678.1:c.13996A>G | XP_011541980.1:p.Ile4666Val | |
| NM_032119.4:c.13996A>G MANE Select | NP_115495.3:p.Ile4666Val | |
| XM_017009963.2:c.14017A>G | XP_016865452.1:p.Ile4673Val | |
| XM_017009964.2:c.14014A>G | XP_016865453.1:p.Ile4672Val | |
| XM_017009965.1:c.14014A>G | XP_016865454.1:p.Ile4672Val | |
| XM_017009966.2:c.13936A>G | XP_016865455.1:p.Ile4646Val | |
| XM_017009967.1:c.13921A>G | XP_016865456.1:p.Ile4641Val | |
| XM_017009968.2:c.14017A>G | XP_016865457.1:p.Ile4673Val | |
| XM_017009969.2:c.14017A>G | XP_016865458.1:p.Ile4673Val | |
| XM_017009970.2:c.14017A>G | XP_016865459.1:p.Ile4673Val | |
| XM_017009971.2:c.14017A>G | XP_016865460.1:p.Ile4673Val | |
| XM_017009972.1:c.7135A>G | XP_016865461.1:p.Ile2379Val | |
| XM_017009973.1:c.7114A>G | XP_016865462.1:p.Ile2372Val | |
| NR_003149.2:n.14012A>G |