Linked Data
ClinVar Variation Id:
1362871
ClinVar RCV Id:
RCV001901965
dbSNP Id:
rs537489349
ExAC:
20:44751336 C / T
gnomAD v2:
20-44751336-C-T
gnomAD v3:
20-46122697-C-T
gnomAD v4:
20-46122697-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46122697C>T , CM000682.2:g.46122697C>T | GRCh38 |
| NC_000020.10:g.44751336C>T , CM000682.1:g.44751336C>T | GRCh37 |
| NC_000020.9:g.44184743C>T | NCBI36 |
| NG_007279.1:g.9431C>T , LRG_40:g.9431C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000477696.6:c.440C>T | ENSP00000512095.1:n.440C>T | |
| ENST00000489304.6:c.344C>T | ENSP00000512096.1:p.Ala115Val | |
| ENST00000695669.1:n.417C>T | ||
| ENST00000695670.1:n.324C>T | ||
| ENST00000695671.1:c.344C>T | ENSP00000512093.1:p.Ala115Val | |
| ENST00000695672.1:n.269C>T | ||
| ENST00000695673.1:n.209C>T | ||
| ENST00000372285.8:c.344C>T MANE Select | ENSP00000361359.3:p.Ala115Val | |
| ENST00000372276.7:c.344C>T | ENSP00000361350.3:p.Ala115Val | |
| ENST00000372285.7:c.344C>T | ENSP00000361359.3:p.Ala115Val | |
| ENST00000461171.1:n.129C>T | ||
| ENST00000466205.5:c.340C>T | ||
| ENST00000477696.5:n.411C>T | ||
| ENST00000489304.5:n.337C>T | ||
| ENST00000620709.4:c.344C>T | ENSP00000484074.1:p.Ala115Val | |
| NM_001250.5:c.344C>T | NP_001241.1:p.Ala115Val | |
| NM_001302753.1:c.344C>T | NP_001289682.1:p.Ala115Val | |
| NM_152854.3:c.344C>T | NP_690593.1:p.Ala115Val | |
| NR_126502.1:n.434C>T | ||
| XM_005260617.2:c.344C>T | XP_005260674.1:p.Ala115Val | |
| XM_005260619.2:c.344C>T | XP_005260676.1:p.Ala115Val | |
| XM_011529109.1:c.344C>T | XP_011527411.1:p.Ala115Val | |
| XR_936660.1:n.438C>T | ||
| NM_001322421.1:c.344C>T | NP_001309350.1:p.Ala115Val | |
| NM_001322422.1:c.344C>T | NP_001309351.1:p.Ala115Val | |
| NM_001362758.1:c.344C>T | NP_001349687.1:p.Ala115Val | |
| NR_136327.1:n.434C>T | ||
| XM_005260619.3:c.344C>T | XP_005260676.1:p.Ala115Val | |
| XM_011529109.2:c.344C>T | XP_011527411.1:p.Ala115Val | |
| XM_017028135.1:c.344C>T | XP_016883624.1:p.Ala115Val | |
| XM_017028136.1:c.344C>T | XP_016883625.1:p.Ala115Val | |
| NM_001250.6:c.344C>T MANE Select | NP_001241.1:p.Ala115Val | |
| NM_001302753.2:c.344C>T | NP_001289682.1:p.Ala115Val | |
| NM_001322421.2:c.344C>T | NP_001309350.1:p.Ala115Val | |
| NM_001322422.2:c.344C>T | NP_001309351.1:p.Ala115Val | |
| NM_001362758.2:c.344C>T | NP_001349687.1:p.Ala115Val | |
| NM_152854.4:c.344C>T | NP_690593.1:p.Ala115Val | |
| NR_126502.2:n.374C>T | ||
| NR_136327.2:n.374C>T |