Linked Data
ClinVar Variation Id:
2248389
ClinVar RCV Id:
RCV002752345
dbSNP Id:
rs766071997
gnomAD v4:
1-95064919-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.95064919T>G , CM000663.2:g.95064919T>G | GRCh38 |
| NC_000001.10:g.95530475T>G , CM000663.1:g.95530475T>G | GRCh37 |
| NC_000001.9:g.95303063T>G | NCBI36 |
| NG_042044.1:g.13033A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370205.6:c.235A>C (ALG14) MANE Select | ENSP00000359224.4:p.Asn79His | |
| ENST00000370205.5:c.235A>C (ALG14) | ENSP00000359224.4:p.Asn79His | |
| ENST00000495856.1:n.211A>C (ALG14) | ||
| NM_001305242.1:c.235A>C (ALG14) | NP_001292171.1:p.Asn79His | |
| NM_144988.3:c.235A>C (ALG14) | NP_659425.1:p.Asn79His | |
| NR_131032.1:n.189+7844A>C (ALG14) | ||
| NR_132786.1:n.595-2125T>G (ALG14-AS1) | ||
| XM_005270582.2:c.235A>C (ALG14) | XP_005270639.1:p.Asn79His | |
| XM_011540897.1:c.235A>C (ALG14) | XP_011539199.1:p.Asn79His | |
| XR_946568.1:n.300A>C (ALG14) | ||
| XM_005270582.4:c.235A>C (ALG14) | XP_005270639.1:p.Asn79His | |
| XM_011540897.2:c.235A>C (ALG14) | XP_011539199.1:p.Asn79His | |
| XR_001737024.1:n.311A>C (ALG14) | ||
| XR_001737025.1:n.311A>C (ALG14) | ||
| XR_946568.3:n.310A>C (ALG14) | ||
| NM_144988.4:c.235A>C (ALG14) MANE Select | NP_659425.1:p.Asn79His | |
| NM_001305242.2:c.235A>C (ALG14) | NP_001292171.1:p.Asn79His | |
| NR_131032.2:n.189+7844A>C (ALG14) |