Linked Data
ClinVar Variation Id:
871348
ClinVar RCV Id:
RCV001091251
dbSNP Id:
rs2054180829
gnomAD v3:
15-42410494-C-T
gnomAD v4:
15-42410494-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42410494C>T , CM000677.2:g.42410494C>T | GRCh38 |
| NC_000015.9:g.42702692C>T , CM000677.1:g.42702692C>T | GRCh37 |
| NC_000015.8:g.40489984C>T | NCBI36 |
| NG_008660.1:g.67392C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337571.9:c.187C>T | ENSP00000336840.4:p.Gln63Ter | |
| ENST00000349748.8:c.1906C>T | ENSP00000183936.4:p.Gln636Ter | |
| ENST00000357568.8:c.2164C>T | ENSP00000350181.3:p.Gln722Ter | |
| ENST00000397163.8:c.2182C>T MANE Select | ENSP00000380349.3:p.Gln728Ter | |
| ENST00000397204.9:c.187C>T | ENSP00000380387.4:p.Gln63Ter | |
| ENST00000466222.7:n.447C>T | ||
| ENST00000466369.5:n.2673C>T | ||
| ENST00000495723.1:n.3053C>T | ||
| ENST00000549793.5:n.2395C>T | ||
| ENST00000562199.2:c.186C>T | ENSP00000501034.1:p.Gly62= | |
| ENST00000568153.2:c.48C>T | ||
| ENST00000569136.6:c.187C>T | ENSP00000455254.1:p.Gln63Ter | |
| ENST00000638141.2:n.1921C>T | ||
| ENST00000673646.1:c.746C>T | ENSP00000501007.1:n.746C>T | |
| ENST00000673684.1:n.164C>T | ||
| ENST00000673687.1:n.691C>T | ||
| ENST00000673692.1:c.187C>T | ENSP00000501138.1:p.Gln63Ter | |
| ENST00000673705.1:c.511-94C>T | ENSP00000501021.1:n.511-94C>T | |
| ENST00000673743.1:c.85C>T | ENSP00000500989.1:p.Gln29Ter | |
| ENST00000673750.1:c.187C>T | ENSP00000501173.1:p.Gln63Ter | |
| ENST00000673771.1:c.187C>T | ENSP00000501023.1:p.Gln63Ter | |
| ENST00000673774.1:n.1315C>T | ||
| ENST00000673839.1:c.187C>T | ENSP00000501188.1:p.Gln63Ter | |
| ENST00000673851.1:c.187C>T | ENSP00000501142.1:p.Gln63Ter | |
| ENST00000673854.1:n.5604C>T | ||
| ENST00000673886.1:c.187C>T | ENSP00000501155.1:p.Gln63Ter | |
| ENST00000673890.1:c.187C>T | ENSP00000501293.1:p.Gln63Ter | |
| ENST00000673893.1:c.385C>T | ENSP00000500987.1:n.385C>T | |
| ENST00000673928.1:c.187C>T | ENSP00000501099.1:p.Gln63Ter | |
| ENST00000673936.1:c.187C>T | ENSP00000501189.1:p.Gln63Ter | |
| ENST00000673939.1:c.187C>T | ENSP00000501129.1:p.Gln63Ter | |
| ENST00000673950.1:n.456C>T | ||
| ENST00000673978.1:c.325C>T | ENSP00000500976.1:p.Gln109Ter | |
| ENST00000673987.1:c.187C>T | ENSP00000501231.1:p.Gln63Ter | |
| ENST00000674011.1:c.187C>T | ENSP00000501171.1:p.Gln63Ter | |
| ENST00000674018.1:c.187C>T | ENSP00000501271.1:p.Gln63Ter | |
| ENST00000674027.1:n.242C>T | ||
| ENST00000674041.1:c.187C>T | ENSP00000500956.1:p.Gln63Ter | |
| ENST00000674052.1:c.406C>T | ENSP00000501057.1:p.Gln136Ter | |
| ENST00000674093.1:c.187C>T | ENSP00000501303.1:p.Gln63Ter | |
| ENST00000674119.1:c.187C>T | ENSP00000501217.1:p.Gln63Ter | |
| ENST00000674135.1:c.364C>T | ENSP00000501178.1:p.Gln122Ter | |
| ENST00000674139.1:c.187C>T | ENSP00000501054.1:p.Gln63Ter | |
| ENST00000674146.1:c.187C>T | ENSP00000501175.1:p.Gln63Ter | |
| ENST00000674149.1:c.187C>T | ENSP00000501112.1:p.Gln63Ter | |
| ENST00000318023.11:c.2038C>T | ENSP00000326281.8:p.Gln680Ter | |
| ENST00000337571.8:c.187C>T | ENSP00000336840.4:p.Gln63Ter | |
| ENST00000349748.7:c.1906C>T | ENSP00000183936.4:p.Gln636Ter | |
| ENST00000356316.7:c.187C>T | ENSP00000348667.4:p.Gln63Ter | |
| ENST00000357568.7:c.2164C>T | ENSP00000350181.3:p.Gln722Ter | |
| ENST00000397163.7:c.2182C>T | ENSP00000380349.3:p.Gln728Ter | |
| ENST00000397200.8:c.646C>T | ENSP00000380384.4:p.Gln216Ter | |
| ENST00000397204.8:c.187C>T | ENSP00000380387.4:p.Gln63Ter | |
| ENST00000466222.6:n.1105C>T | ||
| ENST00000561817.5:c.187C>T | ENSP00000456575.1:p.Gln63Ter | |
| ENST00000562199.1:n.186C>T | ||
| ENST00000564503.5:c.279C>T | ||
| ENST00000565274.5:c.414C>T | ENSP00000457759.1:n.414C>T | |
| ENST00000565559.5:c.364C>T | ENSP00000457878.1:p.Gln122Ter | |
| ENST00000569136.5:c.187C>T | ENSP00000455254.1:p.Gln63Ter | |
| ENST00000569827.5:c.514C>T | ENSP00000454379.1:p.Gln172Ter | |
| NM_000070.2:c.2182C>T | NP_000061.1:p.Gln728Ter | |
| NM_024344.1:c.2164C>T | NP_077320.1:p.Gln722Ter | |
| NM_173087.1:c.1906C>T | NP_775110.1:p.Gln636Ter | |
| NM_173088.1:c.646C>T | NP_775111.1:p.Gln216Ter | |
| NM_173089.1:c.187C>T | NP_775112.1:p.Gln63Ter | |
| NM_173090.1:c.187C>T | NP_775113.1:p.Gln63Ter | |
| NM_000070.3:c.2182C>T MANE Select | NP_000061.1:p.Gln728Ter | |
| NM_024344.2:c.2164C>T | NP_077320.1:p.Gln722Ter | |
| NM_173087.2:c.1906C>T | NP_775110.1:p.Gln636Ter | |
| NM_173088.2:c.646C>T | NP_775111.1:p.Gln216Ter | |
| NM_173089.2:c.187C>T | NP_775112.1:p.Gln63Ter | |
| NM_173090.2:c.187C>T | NP_775113.1:p.Gln63Ter |