Linked Data
ClinVar Variation Id:
285728
dbSNP Id:
rs886043191
ExAC:
15:42703129 G / A
gnomAD v2:
15-42703129-G-A
gnomAD v3:
15-42410931-G-A
gnomAD v4:
15-42410931-G-A
MyVariant Identifiers:
chr15:g.42703129G>A (hg19)
chr15:g.42703129_42703133delinsACAGA (hg19)
chr15:g.42410931G>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42410931G>A , CM000677.2:g.42410931G>A | GRCh38 |
| NC_000015.9:g.42703129G>A , CM000677.1:g.42703129G>A | GRCh37 |
| NC_000015.8:g.40490421G>A | NCBI36 |
| NG_008660.1:g.67829G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337571.9:c.316G>A | ENSP00000336840.4:p.Ala106Thr | |
| ENST00000349748.8:c.2035G>A | ENSP00000183936.4:p.Ala679Thr | |
| ENST00000357568.8:c.2293G>A | ENSP00000350181.3:p.Ala765Thr | |
| ENST00000397163.8:c.2311G>A MANE Select | ENSP00000380349.3:p.Ala771Thr | |
| ENST00000397204.9:c.316G>A | ENSP00000380387.4:p.Ala106Thr | |
| ENST00000466222.7:n.751+5G>A | ||
| ENST00000466369.5:n.2802G>A | ||
| ENST00000495723.1:n.3182G>A | ||
| ENST00000549793.5:n.2524G>A | ||
| ENST00000562199.2:c.315G>A | ENSP00000501034.1:p.Thr105= | |
| ENST00000567817.6:c.100G>A | ENSP00000456514.2:p.Ala34Thr | |
| ENST00000568153.2:c.177G>A | ||
| ENST00000569136.6:c.316G>A | ENSP00000455254.1:p.Ala106Thr | |
| ENST00000638141.2:n.2050G>A | ||
| ENST00000673646.1:c.875G>A | ENSP00000501007.1:n.875G>A | |
| ENST00000673684.1:n.293G>A | ||
| ENST00000673692.1:c.316G>A | ENSP00000501138.1:p.Ala106Thr | |
| ENST00000673705.1:c.854G>A | ENSP00000501021.1:n.854G>A | |
| ENST00000673743.1:c.214G>A | ENSP00000500989.1:p.Ala72Thr | |
| ENST00000673750.1:c.316G>A | ENSP00000501173.1:p.Ala106Thr | |
| ENST00000673771.1:c.316G>A | ENSP00000501023.1:p.Ala106Thr | |
| ENST00000673774.1:n.1444G>A | ||
| ENST00000673839.1:c.316G>A | ENSP00000501188.1:p.Ala106Thr | |
| ENST00000673851.1:c.316G>A | ENSP00000501142.1:p.Ala106Thr | |
| ENST00000673854.1:n.5733G>A | ||
| ENST00000673886.1:c.316G>A | ENSP00000501155.1:p.Ala106Thr | |
| ENST00000673890.1:c.316G>A | ENSP00000501293.1:p.Ala106Thr | |
| ENST00000673928.1:c.316G>A | ENSP00000501099.1:p.Ala106Thr | |
| ENST00000673936.1:c.316G>A | ENSP00000501189.1:p.Ala106Thr | |
| ENST00000673939.1:c.*100+5G>A | ENSP00000501129.1:n.*100+5G>A | |
| ENST00000673950.1:n.585G>A | ||
| ENST00000673978.1:c.454G>A | ENSP00000500976.1:p.Ala152Thr | |
| ENST00000673987.1:c.*100+5G>A | ENSP00000501231.1:n.*100+5G>A | |
| ENST00000674011.1:c.*105G>A | ENSP00000501171.1:n.*105G>A | |
| ENST00000674018.1:c.316G>A | ENSP00000501271.1:p.Ala106Thr | |
| ENST00000674027.1:n.462G>A | ||
| ENST00000674041.1:c.316G>A | ENSP00000500956.1:p.Ala106Thr | |
| ENST00000674052.1:c.535G>A | ENSP00000501057.1:p.Ala179Thr | |
| ENST00000674093.1:c.316G>A | ENSP00000501303.1:p.Ala106Thr | |
| ENST00000674119.1:c.316G>A | ENSP00000501217.1:p.Ala106Thr | |
| ENST00000674135.1:c.493G>A | ENSP00000501178.1:p.Ala165Thr | |
| ENST00000674139.1:c.316G>A | ENSP00000501054.1:p.Ala106Thr | |
| ENST00000674146.1:c.316G>A | ENSP00000501175.1:p.Ala106Thr | |
| ENST00000674149.1:c.316G>A | ENSP00000501112.1:p.Ala106Thr | |
| ENST00000318023.11:c.2167G>A | ENSP00000326281.8:p.Ala723Thr | |
| ENST00000337571.8:c.316G>A | ENSP00000336840.4:p.Ala106Thr | |
| ENST00000349748.7:c.2035G>A | ENSP00000183936.4:p.Ala679Thr | |
| ENST00000356316.7:c.316G>A | ENSP00000348667.4:p.Ala106Thr | |
| ENST00000357568.7:c.2293G>A | ENSP00000350181.3:p.Ala765Thr | |
| ENST00000397163.7:c.2311G>A | ENSP00000380349.3:p.Ala771Thr | |
| ENST00000397200.8:c.775G>A | ENSP00000380384.4:p.Ala259Thr | |
| ENST00000397204.8:c.316G>A | ENSP00000380387.4:p.Ala106Thr | |
| ENST00000466222.6:n.1234G>A | ||
| ENST00000561817.5:c.316G>A | ENSP00000456575.1:p.Ala106Thr | |
| ENST00000562199.1:n.315G>A | ||
| ENST00000564503.5:c.354G>A | ||
| ENST00000565274.5:c.489G>A | ENSP00000457759.1:n.489G>A | |
| ENST00000567817.5:c.127G>A | ENSP00000456514.1:p.Ala43Thr | |
| ENST00000568153.1:c.48G>A | ||
| ENST00000569136.5:c.316G>A | ENSP00000455254.1:p.Ala106Thr | |
| ENST00000569827.5:c.643G>A | ENSP00000454379.1:p.Ala215Thr | |
| NM_000070.2:c.2311G>A | NP_000061.1:p.Ala771Thr | |
| NM_024344.1:c.2293G>A | NP_077320.1:p.Ala765Thr | |
| NM_173087.1:c.2035G>A | NP_775110.1:p.Ala679Thr | |
| NM_173088.1:c.775G>A | NP_775111.1:p.Ala259Thr | |
| NM_173089.1:c.316G>A | NP_775112.1:p.Ala106Thr | |
| NM_173090.1:c.316G>A | NP_775113.1:p.Ala106Thr | |
| NM_000070.3:c.2311G>A MANE Select | NP_000061.1:p.Ala771Thr | |
| NM_024344.2:c.2293G>A | NP_077320.1:p.Ala765Thr | |
| NM_173087.2:c.2035G>A | NP_775110.1:p.Ala679Thr | |
| NM_173088.2:c.775G>A | NP_775111.1:p.Ala259Thr | |
| NM_173089.2:c.316G>A | NP_775112.1:p.Ala106Thr | |
| NM_173090.2:c.316G>A | NP_775113.1:p.Ala106Thr |