Linked Data
ClinVar Variation Id:
965655
dbSNP Id:
rs751443759
ExAC:
15:42702185 C / T
gnomAD v2:
15-42702185-C-T
gnomAD v3:
15-42409987-C-T
gnomAD v4:
15-42409987-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42409987C>T , CM000677.2:g.42409987C>T | GRCh38 |
| NC_000015.9:g.42702185C>T , CM000677.1:g.42702185C>T | GRCh37 |
| NC_000015.8:g.40489477C>T | NCBI36 |
| NG_008660.1:g.66885C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337571.9:c.112C>T | ENSP00000336840.4:p.Leu38Phe | |
| ENST00000349748.8:c.1831C>T | ENSP00000183936.4:p.Leu611Phe | |
| ENST00000357568.8:c.2089C>T | ENSP00000350181.3:p.Leu697Phe | |
| ENST00000397163.8:c.2107C>T MANE Select | ENSP00000380349.3:p.Leu703Phe | |
| ENST00000397204.9:c.112C>T | ENSP00000380387.4:p.Leu38Phe | |
| ENST00000466222.7:n.372C>T | ||
| ENST00000466369.5:n.2598C>T | ||
| ENST00000495723.1:n.2978C>T | ||
| ENST00000549793.5:n.2320C>T | ||
| ENST00000562199.2:c.115C>T | ENSP00000501034.1:p.Leu39Phe | |
| ENST00000569136.6:c.112C>T | ENSP00000455254.1:p.Leu38Phe | |
| ENST00000638141.2:n.1846C>T | ||
| ENST00000673646.1:c.671C>T | ENSP00000501007.1:n.671C>T | |
| ENST00000673687.1:n.184C>T | ||
| ENST00000673692.1:c.112C>T | ENSP00000501138.1:p.Leu38Phe | |
| ENST00000673705.1:c.502C>T | ENSP00000501021.1:n.502C>T | |
| ENST00000673743.1:c.10C>T | ENSP00000500989.1:p.Leu4Phe | |
| ENST00000673750.1:c.112C>T | ENSP00000501173.1:p.Leu38Phe | |
| ENST00000673771.1:c.112C>T | ENSP00000501023.1:p.Leu38Phe | |
| ENST00000673774.1:n.808C>T | ||
| ENST00000673839.1:c.112C>T | ENSP00000501188.1:p.Leu38Phe | |
| ENST00000673851.1:c.112C>T | ENSP00000501142.1:p.Leu38Phe | |
| ENST00000673854.1:n.5529C>T | ||
| ENST00000673886.1:c.112C>T | ENSP00000501155.1:p.Leu38Phe | |
| ENST00000673890.1:c.112C>T | ENSP00000501293.1:p.Leu38Phe | |
| ENST00000673893.1:c.31C>T | ENSP00000500987.1:p.Leu11Phe | |
| ENST00000673928.1:c.112C>T | ENSP00000501099.1:p.Leu38Phe | |
| ENST00000673936.1:c.112C>T | ENSP00000501189.1:p.Leu38Phe | |
| ENST00000673939.1:c.112C>T | ENSP00000501129.1:p.Leu38Phe | |
| ENST00000673950.1:n.381C>T | ||
| ENST00000673978.1:c.250C>T | ENSP00000500976.1:p.Leu84Phe | |
| ENST00000673987.1:c.112C>T | ENSP00000501231.1:p.Leu38Phe | |
| ENST00000674011.1:c.112C>T | ENSP00000501171.1:p.Leu38Phe | |
| ENST00000674018.1:c.112C>T | ENSP00000501271.1:p.Leu38Phe | |
| ENST00000674027.1:n.167C>T | ||
| ENST00000674041.1:c.112C>T | ENSP00000500956.1:p.Leu38Phe | |
| ENST00000674052.1:c.331C>T | ENSP00000501057.1:p.Leu111Phe | |
| ENST00000674093.1:c.112C>T | ENSP00000501303.1:p.Leu38Phe | |
| ENST00000674119.1:c.112C>T | ENSP00000501217.1:p.Leu38Phe | |
| ENST00000674130.1:n.325C>T | ||
| ENST00000674135.1:c.289C>T | ENSP00000501178.1:p.Leu97Phe | |
| ENST00000674139.1:c.112C>T | ENSP00000501054.1:p.Leu38Phe | |
| ENST00000674146.1:c.112C>T | ENSP00000501175.1:p.Leu38Phe | |
| ENST00000674149.1:c.112C>T | ENSP00000501112.1:p.Leu38Phe | |
| ENST00000318023.11:c.1963C>T | ENSP00000326281.8:p.Leu655Phe | |
| ENST00000337571.8:c.112C>T | ENSP00000336840.4:p.Leu38Phe | |
| ENST00000349748.7:c.1831C>T | ENSP00000183936.4:p.Leu611Phe | |
| ENST00000356316.7:c.112C>T | ENSP00000348667.4:p.Leu38Phe | |
| ENST00000357568.7:c.2089C>T | ENSP00000350181.3:p.Leu697Phe | |
| ENST00000397163.7:c.2107C>T | ENSP00000380349.3:p.Leu703Phe | |
| ENST00000397200.8:c.571C>T | ENSP00000380384.4:p.Leu191Phe | |
| ENST00000397204.8:c.112C>T | ENSP00000380387.4:p.Leu38Phe | |
| ENST00000466222.6:n.1030C>T | ||
| ENST00000561817.5:c.112C>T | ENSP00000456575.1:p.Leu38Phe | |
| ENST00000562199.1:n.115C>T | ||
| ENST00000564503.5:c.204C>T | ||
| ENST00000565274.5:c.319C>T | ENSP00000457759.1:p.Leu107Phe | |
| ENST00000565559.5:c.289C>T | ENSP00000457878.1:p.Leu97Phe | |
| ENST00000569136.5:c.112C>T | ENSP00000455254.1:p.Leu38Phe | |
| ENST00000569827.5:c.439C>T | ENSP00000454379.1:p.Leu147Phe | |
| NM_000070.2:c.2107C>T | NP_000061.1:p.Leu703Phe | |
| NM_024344.1:c.2089C>T | NP_077320.1:p.Leu697Phe | |
| NM_173087.1:c.1831C>T | NP_775110.1:p.Leu611Phe | |
| NM_173088.1:c.571C>T | NP_775111.1:p.Leu191Phe | |
| NM_173089.1:c.112C>T | NP_775112.1:p.Leu38Phe | |
| NM_173090.1:c.112C>T | NP_775113.1:p.Leu38Phe | |
| NM_000070.3:c.2107C>T MANE Select | NP_000061.1:p.Leu703Phe | |
| NM_024344.2:c.2089C>T | NP_077320.1:p.Leu697Phe | |
| NM_173087.2:c.1831C>T | NP_775110.1:p.Leu611Phe | |
| NM_173088.2:c.571C>T | NP_775111.1:p.Leu191Phe | |
| NM_173089.2:c.112C>T | NP_775112.1:p.Leu38Phe | |
| NM_173090.2:c.112C>T | NP_775113.1:p.Leu38Phe |