Linked Data
ClinVar Variation Id:
6444
dbSNP Id:
rs121908871
ExAC:
14:81609572 T / G
gnomAD v2:
14-81609572-T-G
gnomAD v3:
14-81143228-T-G
gnomAD v4:
14-81143228-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.81143228T>G , CM000676.2:g.81143228T>G | GRCh38 |
| NC_000014.8:g.81609572T>G , CM000676.1:g.81609572T>G | GRCh37 |
| NC_000014.7:g.80679325T>G | NCBI36 |
| NG_009206.1:g.192704T>G , LRG_523:g.192704T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000298171.7:c.1170T>G MANE Select | ENSP00000298171.2:p.Cys390Trp | |
| ENST00000636454.1:n.1088T>G | ||
| ENST00000637447.1:c.73T>G | ||
| ENST00000298171.6:c.1170T>G | ENSP00000298171.2:p.Cys390Trp | |
| ENST00000541158.6:c.1170T>G | ENSP00000441235.2:p.Cys390Trp | |
| NM_000369.2:c.1170T>G , LRG_523t1:c.1170T>G | NP_000360.2:p.Cys390Trp | |
| XM_005268037.3:c.1170T>G | XP_005268094.1:p.Cys390Trp | |
| XM_011537119.1:c.891T>G | XP_011535421.1:p.Cys297Trp | |
| XR_245790.3:n.2086+21965A>C | ||
| XR_429385.2:n.853+21965A>C | ||
| XR_429386.2:n.854+21965A>C | ||
| XR_944075.1:n.865+21965A>C | ||
| XR_944076.1:n.861+21965A>C | ||
| XR_944077.1:n.865+21965A>C | ||
| XR_944078.1:n.865+21965A>C | ||
| XR_944079.1:n.855+21965A>C | ||
| XM_005268037.4:c.1170T>G | XP_005268094.1:p.Cys390Trp | |
| XM_011537119.2:c.891T>G | XP_011535421.1:p.Cys297Trp | |
| XR_001751021.1:n.2753+21965A>C | ||
| XR_001751022.1:n.2753+21965A>C | ||
| XR_001751023.1:n.2753+21965A>C | ||
| XR_944075.3:n.929+21965A>C | ||
| NM_000369.4:c.1170T>G | NP_000360.2:p.Cys390Trp | |
| NM_000369.5:c.1170T>G MANE Select | NP_000360.2:p.Cys390Trp |