Linked Data
ClinVar Variation Id:
726776
dbSNP Id:
rs777128238
ExAC:
14:81606095 A / G
gnomAD v2:
14-81606095-A-G
gnomAD v3:
14-81139751-A-G
gnomAD v4:
14-81139751-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.81139751A>G , CM000676.2:g.81139751A>G | GRCh38 |
| NC_000014.8:g.81606095A>G , CM000676.1:g.81606095A>G | GRCh37 |
| NC_000014.7:g.80675848A>G | NCBI36 |
| NG_009206.1:g.189227A>G , LRG_523:g.189227A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298171.7:c.765A>G MANE Select | ENSP00000298171.2:p.Arg255= | |
| ENST00000636454.1:n.683A>G | ||
| ENST00000298171.6:c.765A>G | ENSP00000298171.2:p.Arg255= | |
| ENST00000541158.6:c.765A>G | ENSP00000441235.2:p.Arg255= | |
| NM_000369.2:c.765A>G , LRG_523t1:c.765A>G | NP_000360.2:p.Arg255= | |
| XM_005268037.3:c.765A>G | XP_005268094.1:p.Arg255= | |
| XM_011537119.1:c.486A>G | XP_011535421.1:p.Arg162= | |
| XR_245790.3:n.2086+25442T>C | ||
| XR_429385.2:n.853+25442T>C | ||
| XR_429386.2:n.854+25442T>C | ||
| XR_944075.1:n.865+25442T>C | ||
| XR_944076.1:n.861+25442T>C | ||
| XR_944077.1:n.865+25442T>C | ||
| XR_944078.1:n.865+25442T>C | ||
| XR_944079.1:n.855+25442T>C | ||
| XM_005268037.4:c.765A>G | XP_005268094.1:p.Arg255= | |
| XM_011537119.2:c.486A>G | XP_011535421.1:p.Arg162= | |
| XR_001751021.1:n.2753+25442T>C | ||
| XR_001751022.1:n.2753+25442T>C | ||
| XR_001751023.1:n.2753+25442T>C | ||
| XR_944075.3:n.929+25442T>C | ||
| NM_000369.4:c.765A>G | NP_000360.2:p.Arg255= | |
| NM_000369.5:c.765A>G MANE Select | NP_000360.2:p.Arg255= |