Linked Data
ClinVar Variation Id:
283259
dbSNP Id:
rs768090444
ExAC:
15:42702843 C / T
gnomAD v2:
15-42702843-C-T
gnomAD v3:
15-42410645-C-T
gnomAD v4:
15-42410645-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42410645C>T , CM000677.2:g.42410645C>T | GRCh38 |
| NC_000015.9:g.42702843C>T , CM000677.1:g.42702843C>T | GRCh37 |
| NC_000015.8:g.40490135C>T | NCBI36 |
| NG_008660.1:g.67543C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337571.9:c.247C>T | ENSP00000336840.4:p.Arg83Ter | |
| ENST00000349748.8:c.1966C>T | ENSP00000183936.4:p.Arg656Ter | |
| ENST00000357568.8:c.2224C>T | ENSP00000350181.3:p.Arg742Ter | |
| ENST00000397163.8:c.2242C>T MANE Select | ENSP00000380349.3:p.Arg748Ter | |
| ENST00000397204.9:c.247C>T | ENSP00000380387.4:p.Arg83Ter | |
| ENST00000466222.7:n.598C>T | ||
| ENST00000466369.5:n.2733C>T | ||
| ENST00000495723.1:n.3113C>T | ||
| ENST00000549793.5:n.2455C>T | ||
| ENST00000562199.2:c.246C>T | ENSP00000501034.1:p.Cys82= | |
| ENST00000567817.6:c.31C>T | ENSP00000456514.2:p.Arg11Ter | |
| ENST00000568153.2:c.108C>T | ||
| ENST00000569136.6:c.247C>T | ENSP00000455254.1:p.Arg83Ter | |
| ENST00000638141.2:n.1981C>T | ||
| ENST00000673646.1:c.806C>T | ENSP00000501007.1:n.806C>T | |
| ENST00000673684.1:n.224C>T | ||
| ENST00000673687.1:n.842C>T | ||
| ENST00000673692.1:c.247C>T | ENSP00000501138.1:p.Arg83Ter | |
| ENST00000673705.1:c.568C>T | ENSP00000501021.1:n.568C>T | |
| ENST00000673743.1:c.145C>T | ENSP00000500989.1:p.Arg49Ter | |
| ENST00000673750.1:c.247C>T | ENSP00000501173.1:p.Arg83Ter | |
| ENST00000673771.1:c.247C>T | ENSP00000501023.1:p.Arg83Ter | |
| ENST00000673774.1:n.1375C>T | ||
| ENST00000673839.1:c.247C>T | ENSP00000501188.1:p.Arg83Ter | |
| ENST00000673851.1:c.247C>T | ENSP00000501142.1:p.Arg83Ter | |
| ENST00000673854.1:n.5664C>T | ||
| ENST00000673886.1:c.247C>T | ENSP00000501155.1:p.Arg83Ter | |
| ENST00000673890.1:c.247C>T | ENSP00000501293.1:p.Arg83Ter | |
| ENST00000673928.1:c.247C>T | ENSP00000501099.1:p.Arg83Ter | |
| ENST00000673936.1:c.247C>T | ENSP00000501189.1:p.Arg83Ter | |
| ENST00000673939.1:c.247C>T | ENSP00000501129.1:p.Arg83Ter | |
| ENST00000673950.1:n.516C>T | ||
| ENST00000673978.1:c.385C>T | ENSP00000500976.1:p.Arg129Ter | |
| ENST00000673987.1:c.247C>T | ENSP00000501231.1:p.Arg83Ter | |
| ENST00000674011.1:c.247C>T | ENSP00000501171.1:p.Arg83Ter | |
| ENST00000674018.1:c.247C>T | ENSP00000501271.1:p.Arg83Ter | |
| ENST00000674027.1:n.393C>T | ||
| ENST00000674041.1:c.247C>T | ENSP00000500956.1:p.Arg83Ter | |
| ENST00000674052.1:c.466C>T | ENSP00000501057.1:p.Arg156Ter | |
| ENST00000674093.1:c.247C>T | ENSP00000501303.1:p.Arg83Ter | |
| ENST00000674119.1:c.247C>T | ENSP00000501217.1:p.Arg83Ter | |
| ENST00000674135.1:c.424C>T | ENSP00000501178.1:p.Arg142Ter | |
| ENST00000674139.1:c.247C>T | ENSP00000501054.1:p.Arg83Ter | |
| ENST00000674146.1:c.247C>T | ENSP00000501175.1:p.Arg83Ter | |
| ENST00000674149.1:c.247C>T | ENSP00000501112.1:p.Arg83Ter | |
| ENST00000318023.11:c.2098C>T | ENSP00000326281.8:p.Arg700Ter | |
| ENST00000337571.8:c.247C>T | ENSP00000336840.4:p.Arg83Ter | |
| ENST00000349748.7:c.1966C>T | ENSP00000183936.4:p.Arg656Ter | |
| ENST00000356316.7:c.247C>T | ENSP00000348667.4:p.Arg83Ter | |
| ENST00000357568.7:c.2224C>T | ENSP00000350181.3:p.Arg742Ter | |
| ENST00000397163.7:c.2242C>T | ENSP00000380349.3:p.Arg748Ter | |
| ENST00000397200.8:c.706C>T | ENSP00000380384.4:p.Arg236Ter | |
| ENST00000397204.8:c.247C>T | ENSP00000380387.4:p.Arg83Ter | |
| ENST00000466222.6:n.1165C>T | ||
| ENST00000561817.5:c.247C>T | ENSP00000456575.1:p.Arg83Ter | |
| ENST00000562199.1:n.246C>T | ||
| ENST00000564503.5:c.285C>T | ||
| ENST00000565274.5:c.420C>T | ENSP00000457759.1:n.420C>T | |
| ENST00000565559.5:c.424C>T | ENSP00000457878.1:p.Arg142Ter | |
| ENST00000567817.5:c.58C>T | ENSP00000456514.1:p.Arg20Ter | |
| ENST00000569136.5:c.247C>T | ENSP00000455254.1:p.Arg83Ter | |
| ENST00000569827.5:c.574C>T | ENSP00000454379.1:p.Arg192Ter | |
| NM_000070.2:c.2242C>T | NP_000061.1:p.Arg748Ter | |
| NM_024344.1:c.2224C>T | NP_077320.1:p.Arg742Ter | |
| NM_173087.1:c.1966C>T | NP_775110.1:p.Arg656Ter | |
| NM_173088.1:c.706C>T | NP_775111.1:p.Arg236Ter | |
| NM_173089.1:c.247C>T | NP_775112.1:p.Arg83Ter | |
| NM_173090.1:c.247C>T | NP_775113.1:p.Arg83Ter | |
| NM_000070.3:c.2242C>T MANE Select | NP_000061.1:p.Arg748Ter | |
| NM_024344.2:c.2224C>T | NP_077320.1:p.Arg742Ter | |
| NM_173087.2:c.1966C>T | NP_775110.1:p.Arg656Ter | |
| NM_173088.2:c.706C>T | NP_775111.1:p.Arg236Ter | |
| NM_173089.2:c.247C>T | NP_775112.1:p.Arg83Ter | |
| NM_173090.2:c.247C>T | NP_775113.1:p.Arg83Ter |