Linked Data
ClinVar Variation Id:
44136
ClinVar RCV Id:
RCV002490503
dbSNP Id:
rs35661993
ExAC:
3:121712434 A / G
gnomAD v2:
3-121712434-A-G
gnomAD v3:
3-121993587-A-G
gnomAD v4:
3-121993587-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.121993587A>G , CM000665.2:g.121993587A>G | GRCh38 |
| NC_000003.11:g.121712434A>G , CM000665.1:g.121712434A>G | GRCh37 |
| NC_000003.10:g.123195124A>G | NCBI36 |
| NG_031870.1:g.33694T>C | |
| NG_031870.2:g.71968T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000344209.10:c.1162T>C MANE Select | ENSP00000345667.5:p.Trp388Arg | |
| ENST00000460554.2:n.1112T>C | ||
| ENST00000642615.1:c.*345T>C | ENSP00000495499.1:n.*345T>C | |
| ENST00000273691.7:c.1030T>C | ENSP00000273691.3:p.Trp344Arg | |
| ENST00000344209.9:c.1162T>C | ENSP00000345667.5:p.Trp388Arg | |
| ENST00000393631.5:c.895T>C | ENSP00000377251.1:p.Trp299Arg | |
| ENST00000460554.1:n.1264T>C | ||
| ENST00000462014.1:c.1066T>C | ENSP00000419414.1:p.Trp356Arg | |
| NM_001199799.1:c.1162T>C | NP_001186728.1:p.Trp388Arg | |
| NM_001199800.1:c.895T>C | NP_001186729.1:p.Trp299Arg | |
| NM_175924.3:c.1030T>C | NP_787120.1:p.Trp344Arg | |
| XM_005247389.3:c.1066T>C | XP_005247446.1:p.Trp356Arg | |
| XM_011512738.1:c.1162T>C | XP_011511040.1:p.Trp388Arg | |
| XM_011512739.1:c.625T>C | XP_011511041.1:p.Trp209Arg | |
| XM_005247389.4:c.1066T>C | XP_005247446.1:p.Trp356Arg | |
| XM_011512738.2:c.1162T>C | XP_011511040.1:p.Trp388Arg | |
| XM_011512739.2:c.625T>C | XP_011511041.1:p.Trp209Arg | |
| NM_001199799.2:c.1162T>C MANE Select | NP_001186728.1:p.Trp388Arg | |
| NM_001199800.2:c.895T>C | NP_001186729.1:p.Trp299Arg | |
| NM_175924.4:c.1030T>C | NP_787120.1:p.Trp344Arg |