Linked Data
ClinVar Variation Id:
234924
dbSNP Id:
rs200440467
ExAC:
14:31542174 C / T
gnomAD v2:
14-31542174-C-T
gnomAD v3:
14-31072968-C-T
gnomAD v4:
14-31072968-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.31072968C>T , CM000676.2:g.31072968C>T | GRCh38 |
| NC_000014.8:g.31542174C>T , CM000676.1:g.31542174C>T | GRCh37 |
| NC_000014.7:g.30611925C>T | NCBI36 |
| NG_031913.1:g.52863C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000556232.7:c.289C>T | ENSP00000451918.2:p.Arg97Ter | |
| ENST00000216366.9:c.289C>T | ENSP00000216366.5:p.Arg97Ter | |
| ENST00000313566.11:c.289C>T | ENSP00000322508.8:p.Arg97Ter | |
| ENST00000554345.6:c.289C>T | ENSP00000450768.2:p.Arg97Ter | |
| ENST00000554609.6:c.289C>T | ENSP00000452383.2:p.Arg97Ter | |
| ENST00000555417.6:c.289C>T | ENSP00000451609.2:p.Arg97Ter | |
| ENST00000556232.6:c.289C>T | ENSP00000451918.2:p.Arg97Ter | |
| ENST00000557346.6:c.289C>T | ENSP00000451479.2:p.Arg97Ter | |
| ENST00000542754.7:c.289C>T MANE Select | ENSP00000438170.2:p.Arg97Ter | |
| ENST00000672143.1:c.289C>T | ENSP00000500016.1:p.Arg97Ter | |
| ENST00000673001.1:c.289C>T | ENSP00000500716.1:p.Arg97Ter | |
| ENST00000673317.1:c.289C>T | ENSP00000500890.1:p.Arg97Ter | |
| ENST00000216366.8:c.289C>T | ENSP00000216366.4:p.Arg97Ter | |
| ENST00000313566.10:c.289C>T | ENSP00000322508.7:p.Arg97Ter | |
| ENST00000334725.8:c.289C>T | ENSP00000334484.4:p.Arg97Ter | |
| ENST00000542754.6:c.289C>T | ENSP00000438170.2:p.Arg97Ter | |
| ENST00000554345.5:c.289C>T | ENSP00000450768.1:p.Arg97Ter | |
| ENST00000554609.5:c.289C>T | ENSP00000452383.1:p.Arg97Ter | |
| ENST00000556232.5:c.289C>T | ENSP00000451918.1:p.Arg97Ter | |
| ENST00000556480.1:c.190C>T | ENSP00000451614.1:p.Arg64Ter | |
| ENST00000557346.5:c.289C>T | ENSP00000451479.1:p.Arg97Ter | |
| ENST00000616371.4:c.289C>T | ENSP00000477631.1:p.Arg97Ter | |
| ENST00000622409.4:c.289C>T | ENSP00000482876.1:p.Arg97Ter | |
| NM_001128126.2:c.289C>T | NP_001121598.1:p.Arg97Ter | |
| NM_001254726.1:c.289C>T | NP_001241655.1:p.Arg97Ter | |
| NM_001254727.1:c.289C>T | NP_001241656.1:p.Arg97Ter | |
| NM_001254728.1:c.289C>T | NP_001241657.1:p.Arg97Ter | |
| NM_001254729.1:c.289C>T | NP_001241658.1:p.Arg97Ter | |
| NM_007077.4:c.289C>T | NP_009008.2:p.Arg97Ter | |
| XM_005267293.3:c.289C>T | XP_005267350.1:p.Arg97Ter | |
| XM_011536371.1:c.289C>T | XP_011534673.1:p.Arg97Ter | |
| XM_011536372.1:c.289C>T | XP_011534674.1:p.Arg97Ter | |
| XM_005267293.5:c.289C>T | XP_005267350.1:p.Arg97Ter | |
| XM_011536371.3:c.289C>T | XP_011534673.1:p.Arg97Ter | |
| XM_011536372.3:c.289C>T | XP_011534674.1:p.Arg97Ter | |
| NM_001128126.3:c.289C>T MANE Select | NP_001121598.1:p.Arg97Ter | |
| NM_001254726.2:c.289C>T | NP_001241655.1:p.Arg97Ter | |
| NM_001254727.2:c.289C>T | NP_001241656.1:p.Arg97Ter | |
| NM_001254728.2:c.289C>T | NP_001241657.1:p.Arg97Ter | |
| NM_001254729.2:c.289C>T | NP_001241658.1:p.Arg97Ter | |
| NM_007077.5:c.289C>T | NP_009008.2:p.Arg97Ter |