Linked Data
ClinVar Variation Id:
478511
dbSNP Id:
rs185397176
ExAC:
3:52422605 C / T
gnomAD v2:
3-52422605-C-T
gnomAD v3:
3-52388589-C-T
gnomAD v4:
3-52388589-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52388589C>T , CM000665.2:g.52388589C>T | GRCh38 |
| NC_000003.11:g.52422605C>T , CM000665.1:g.52422605C>T | GRCh37 |
| NC_000003.10:g.52397645C>T | NCBI36 |
| NG_052911.1:g.77271C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000420323.7:c.9343C>T MANE Select | ENSP00000401514.2:p.Arg3115Trp | |
| ENST00000420323.6:c.9343C>T | ENSP00000401514.2:p.Arg3115Trp | |
| ENST00000486752.5:n.9604C>T | ||
| ENST00000488988.5:n.933C>T | ||
| ENST00000490713.5:c.43C>T | ENSP00000419071.1:p.Arg15Trp | |
| NM_015512.4:c.9343C>T | NP_056327.4:p.Arg3115Trp | |
| XM_011533577.1:c.9412C>T | XP_011531879.1:p.Arg3138Trp | |
| XM_017006129.1:c.9412C>T | XP_016861618.1:p.Arg3138Trp | |
| XM_017006130.1:c.9343C>T | XP_016861619.1:p.Arg3115Trp | |
| XM_017006131.1:c.9412C>T | XP_016861620.1:p.Arg3138Trp | |
| XM_017006132.1:c.9412C>T | XP_016861621.1:p.Arg3138Trp | |
| XM_017006133.1:c.9412C>T | XP_016861622.1:p.Arg3138Trp | |
| XR_001740098.1:n.12561C>T | ||
| XR_001740099.1:n.12561C>T | ||
| NM_015512.5:c.9343C>T MANE Select | NP_056327.4:p.Arg3115Trp |