Linked Data
ClinVar Variation Id:
191056
dbSNP Id:
rs149969786
ExAC:
15:42703147 A / G
gnomAD v2:
15-42703147-A-G
gnomAD v3:
15-42410949-A-G
gnomAD v4:
15-42410949-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42410949A>G , CM000677.2:g.42410949A>G | GRCh38 |
| NC_000015.9:g.42703147A>G , CM000677.1:g.42703147A>G | GRCh37 |
| NC_000015.8:g.40490439A>G | NCBI36 |
| NG_008660.1:g.67847A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000337571.9:c.334A>G | ENSP00000336840.4:p.Ile112Val | |
| ENST00000349748.8:c.2053A>G | ENSP00000183936.4:p.Ile685Val | |
| ENST00000357568.8:c.2311A>G | ENSP00000350181.3:p.Ile771Val | |
| ENST00000397163.8:c.2329A>G MANE Select | ENSP00000380349.3:p.Ile777Val | |
| ENST00000397204.9:c.334A>G | ENSP00000380387.4:p.Ile112Val | |
| ENST00000466222.7:n.751+23A>G | ||
| ENST00000466369.5:n.2820A>G | ||
| ENST00000495723.1:n.3200A>G | ||
| ENST00000549793.5:n.2542A>G | ||
| ENST00000562199.2:c.333A>G | ENSP00000501034.1:n.333A>G | |
| ENST00000567817.6:c.118A>G | ENSP00000456514.2:p.Ile40Val | |
| ENST00000568153.2:c.195A>G | ||
| ENST00000569136.6:c.334A>G | ENSP00000455254.1:p.Ile112Val | |
| ENST00000638141.2:n.2068A>G | ||
| ENST00000673646.1:c.893A>G | ENSP00000501007.1:n.893A>G | |
| ENST00000673684.1:n.311A>G | ||
| ENST00000673692.1:c.334A>G | ENSP00000501138.1:p.Ile112Val | |
| ENST00000673705.1:c.872A>G | ENSP00000501021.1:n.872A>G | |
| ENST00000673743.1:c.232A>G | ENSP00000500989.1:p.Ile78Val | |
| ENST00000673750.1:c.334A>G | ENSP00000501173.1:p.Ile112Val | |
| ENST00000673771.1:c.334A>G | ENSP00000501023.1:p.Ile112Val | |
| ENST00000673774.1:n.1462A>G | ||
| ENST00000673839.1:c.334A>G | ENSP00000501188.1:p.Ile112Val | |
| ENST00000673851.1:c.334A>G | ENSP00000501142.1:p.Ile112Val | |
| ENST00000673854.1:n.5751A>G | ||
| ENST00000673886.1:c.334A>G | ENSP00000501155.1:p.Ile112Val | |
| ENST00000673890.1:c.334A>G | ENSP00000501293.1:p.Ile112Val | |
| ENST00000673928.1:c.334A>G | ENSP00000501099.1:p.Ile112Val | |
| ENST00000673936.1:c.334A>G | ENSP00000501189.1:p.Ile112Val | |
| ENST00000673939.1:c.*100+23A>G | ENSP00000501129.1:n.*100+23A>G | |
| ENST00000673950.1:n.603A>G | ||
| ENST00000673978.1:c.472A>G | ENSP00000500976.1:p.Ile158Val | |
| ENST00000673987.1:c.*100+23A>G | ENSP00000501231.1:n.*100+23A>G | |
| ENST00000674011.1:c.*123A>G | ENSP00000501171.1:n.*123A>G | |
| ENST00000674018.1:c.334A>G | ENSP00000501271.1:p.Ile112Val | |
| ENST00000674027.1:n.480A>G | ||
| ENST00000674041.1:c.334A>G | ENSP00000500956.1:p.Ile112Val | |
| ENST00000674052.1:c.553A>G | ENSP00000501057.1:p.Ile185Val | |
| ENST00000674093.1:c.334A>G | ENSP00000501303.1:p.Ile112Val | |
| ENST00000674119.1:c.334A>G | ENSP00000501217.1:p.Ile112Val | |
| ENST00000674135.1:c.511A>G | ENSP00000501178.1:p.Ile171Val | |
| ENST00000674139.1:c.334A>G | ENSP00000501054.1:p.Ile112Val | |
| ENST00000674146.1:c.334A>G | ENSP00000501175.1:p.Ile112Val | |
| ENST00000674149.1:c.334A>G | ENSP00000501112.1:p.Ile112Val | |
| ENST00000318023.11:c.2185A>G | ENSP00000326281.8:p.Ile729Val | |
| ENST00000337571.8:c.334A>G | ENSP00000336840.4:p.Ile112Val | |
| ENST00000349748.7:c.2053A>G | ENSP00000183936.4:p.Ile685Val | |
| ENST00000356316.7:c.334A>G | ENSP00000348667.4:p.Ile112Val | |
| ENST00000357568.7:c.2311A>G | ENSP00000350181.3:p.Ile771Val | |
| ENST00000397163.7:c.2329A>G | ENSP00000380349.3:p.Ile777Val | |
| ENST00000397200.8:c.793A>G | ENSP00000380384.4:p.Ile265Val | |
| ENST00000397204.8:c.334A>G | ENSP00000380387.4:p.Ile112Val | |
| ENST00000466222.6:n.1252A>G | ||
| ENST00000561817.5:c.334A>G | ENSP00000456575.1:p.Ile112Val | |
| ENST00000562199.1:n.333A>G | ||
| ENST00000564503.5:c.372A>G | ||
| ENST00000565274.5:c.507A>G | ENSP00000457759.1:n.507A>G | |
| ENST00000567817.5:c.145A>G | ENSP00000456514.1:p.Ile49Val | |
| ENST00000568153.1:c.66A>G | ||
| ENST00000569136.5:c.334A>G | ENSP00000455254.1:p.Ile112Val | |
| ENST00000569827.5:c.661A>G | ENSP00000454379.1:p.Ile221Val | |
| NM_000070.2:c.2329A>G | NP_000061.1:p.Ile777Val | |
| NM_024344.1:c.2311A>G | NP_077320.1:p.Ile771Val | |
| NM_173087.1:c.2053A>G | NP_775110.1:p.Ile685Val | |
| NM_173088.1:c.793A>G | NP_775111.1:p.Ile265Val | |
| NM_173089.1:c.334A>G | NP_775112.1:p.Ile112Val | |
| NM_173090.1:c.334A>G | NP_775113.1:p.Ile112Val | |
| NM_000070.3:c.2329A>G MANE Select | NP_000061.1:p.Ile777Val | |
| NM_024344.2:c.2311A>G | NP_077320.1:p.Ile771Val | |
| NM_173087.2:c.2053A>G | NP_775110.1:p.Ile685Val | |
| NM_173088.2:c.793A>G | NP_775111.1:p.Ile265Val | |
| NM_173089.2:c.334A>G | NP_775112.1:p.Ile112Val | |
| NM_173090.2:c.334A>G | NP_775113.1:p.Ile112Val |