Linked Data
ClinVar Variation Id:
160375
dbSNP Id:
rs138292988
ExAC:
2:224642493 G / A
gnomAD v2:
2-224642493-G-A
gnomAD v3:
2-223777776-G-A
gnomAD v4:
2-223777776-G-A
PubMed:
PMID:24791904
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.223777776G>A , CM000664.2:g.223777776G>A | GRCh38 |
| NC_000002.11:g.224642493G>A , CM000664.1:g.224642493G>A | GRCh37 |
| NC_000002.10:g.224350737G>A | NCBI36 |
| NG_034017.1:g.64827C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699384.1:n.144C>T | ||
| ENST00000699385.1:c.97C>T | ENSP00000514349.1:p.Arg33Trp | |
| ENST00000699386.1:c.97C>T | ENSP00000514350.1:p.Arg33Trp | |
| ENST00000699387.1:c.97C>T | ENSP00000514351.1:p.Arg33Trp | |
| ENST00000699389.1:c.97C>T | ENSP00000514352.1:p.Arg33Trp | |
| ENST00000699390.1:c.92C>T | ||
| ENST00000699391.1:c.97C>T | ENSP00000514354.1:p.Arg33Trp | |
| ENST00000699392.1:c.35C>T | ||
| ENST00000699393.1:n.234C>T | ||
| ENST00000396654.7:c.97C>T MANE Select | ENSP00000379891.2:p.Arg33Trp | |
| ENST00000650969.1:c.*1061C>T | ENSP00000498456.1:n.*1061C>T | |
| ENST00000334271.7:c.97C>T | ENSP00000333888.3:p.Arg33Trp | |
| ENST00000396653.2:c.97C>T | ENSP00000379890.2:p.Arg33Trp | |
| ENST00000396654.6:c.97C>T | ENSP00000379891.2:p.Arg33Trp | |
| ENST00000409375.1:c.97C>T | ENSP00000387199.1:p.Arg33Trp | |
| ENST00000415298.5:c.97C>T | ENSP00000401705.1:p.Arg33Trp | |
| ENST00000443700.5:c.97C>T | ENSP00000397155.1:p.Arg33Trp | |
| ENST00000444408.1:c.-109C>T | ENSP00000399738.1:n.-109C>T | |
| ENST00000446015.6:c.97C>T | ENSP00000388738.2:p.Arg33Trp | |
| NM_001039569.1:c.97C>T | NP_001034658.1:p.Arg33Trp | |
| NR_110905.1:n.249C>T | ||
| NR_110906.1:n.249C>T | ||
| XM_011510600.1:c.97C>T | XP_011508902.1:p.Arg33Trp | |
| XM_011510600.3:c.97C>T | XP_011508902.1:p.Arg33Trp | |
| NM_001039569.2:c.97C>T MANE Select | NP_001034658.1:p.Arg33Trp | |
| NR_110905.2:n.229C>T | ||
| NR_110906.2:n.229C>T |