Linked Data
ClinVar Variation Id:
55233
dbSNP Id:
rs80357095
ExAC:
17:41226438 T / C
gnomAD v2:
17-41226438-T-C
gnomAD v3:
17-43074421-T-C
gnomAD v4:
17-43074421-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43074421T>C , CM000679.2:g.43074421T>C | GRCh38 |
| NC_000017.10:g.41226438T>C , CM000679.1:g.41226438T>C | GRCh37 |
| NC_000017.9:g.38479964T>C | NCBI36 |
| NG_005905.2:g.143563A>G , LRG_292:g.143563A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.4582A>G | ENSP00000417241.2:p.Ile1528Val | |
| ENST00000470026.6:c.4585A>G | ENSP00000419274.2:p.Ile1529Val | |
| ENST00000473961.6:c.4459A>G | ENSP00000420201.2:p.Ile1487Val | |
| ENST00000476777.6:c.4579A>G | ENSP00000417554.2:p.Ile1527Val | |
| ENST00000477152.6:c.4507A>G | ENSP00000419988.2:p.Ile1503Val | |
| ENST00000478531.6:c.1273A>G | ENSP00000420412.2:p.Ile425Val | |
| ENST00000489037.2:c.4507A>G | ENSP00000420781.2:p.Ile1503Val | |
| ENST00000493919.6:c.1135A>G | ENSP00000418819.2:p.Ile379Val | |
| ENST00000494123.6:c.4585A>G | ENSP00000419103.2:p.Ile1529Val | |
| ENST00000497488.2:c.3697A>G | ENSP00000418986.2:p.Ile1233Val | |
| ENST00000618469.2:c.4585A>G | ENSP00000478114.2:p.Ile1529Val | |
| ENST00000634433.2:c.4462A>G | ENSP00000489431.2:p.Ile1488Val | |
| ENST00000644379.2:c.4651A>G | ENSP00000496570.2:p.Ile1551Val | |
| ENST00000644555.2:c.1135A>G | ENSP00000494614.2:p.Ile379Val | |
| ENST00000652672.2:c.4444A>G | ENSP00000498906.2:p.Ile1482Val | |
| ENST00000484087.6:c.1147A>G | ENSP00000419481.2:p.Ile383Val | |
| ENST00000700182.1:c.1192A>G | ENSP00000514849.1:p.Ile398Val | |
| ENST00000357654.9:c.4585A>G MANE Select | ENSP00000350283.3:p.Ile1529Val | |
| ENST00000471181.7:c.4648A>G | ENSP00000418960.2:p.Ile1550Val | |
| ENST00000644379.1:c.972A>G | ||
| ENST00000352993.7:c.1159A>G | ENSP00000312236.5:p.Ile387Val | |
| ENST00000357654.7:c.4585A>G | ENSP00000350283.3:p.Ile1529Val | |
| ENST00000461221.5:c.*4368A>G | ENSP00000418548.1:n.*4368A>G | |
| ENST00000468300.5:c.1273A>G | ENSP00000417148.1:p.Ile425Val | |
| ENST00000471181.6:c.4648A>G | ENSP00000418960.2:p.Ile1550Val | |
| ENST00000478531.5:c.1273A>G | ENSP00000420412.1:p.Ile425Val | |
| ENST00000484087.5:c.898A>G | ENSP00000419481.1:p.Ile300Val | |
| ENST00000491747.6:c.1273A>G | ENSP00000420705.2:p.Ile425Val | |
| ENST00000493795.5:c.4444A>G | ENSP00000418775.1:p.Ile1482Val | |
| ENST00000493919.5:c.1135A>G | ENSP00000418819.1:p.Ile379Val | |
| ENST00000586385.5:c.5-10470A>G | ENSP00000465818.1:n.5-10470A>G | |
| ENST00000591534.5:c.58A>G | ENSP00000467329.1:p.Ile20Val | |
| ENST00000591849.5:c.-98-24231A>G | ENSP00000465347.1:n.-98-24231A>G | |
| NM_007294.3:c.4585A>G , LRG_292t1:c.4585A>G | NP_009225.1:p.Ile1529Val | |
| NM_007297.3:c.4444A>G | NP_009228.2:p.Ile1482Val | |
| NM_007298.3:c.1273A>G | NP_009229.2:p.Ile425Val | |
| NM_007299.3:c.1273A>G | NP_009230.2:p.Ile425Val | |
| NM_007300.3:c.4648A>G | NP_009231.2:p.Ile1550Val | |
| NR_027676.1:n.4721A>G | ||
| NM_007294.4:c.4585A>G MANE Select | NP_009225.1:p.Ile1529Val | |
| NM_007297.4:c.4444A>G | NP_009228.2:p.Ile1482Val | |
| NM_007299.4:c.1273A>G | NP_009230.2:p.Ile425Val | |
| NM_007300.4:c.4648A>G | NP_009231.2:p.Ile1550Val | |
| NR_027676.2:n.4762A>G |