Linked Data
ClinVar Variation Id:
384519
dbSNP Id:
rs766771102
ExAC:
2:73800036 C / T
gnomAD v2:
2-73800036-C-T
gnomAD v3:
2-73572909-C-T
gnomAD v4:
2-73572909-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73572909C>T , CM000664.2:g.73572909C>T | GRCh38 |
| NC_000002.11:g.73800036C>T , CM000664.1:g.73800036C>T | GRCh37 |
| NC_000002.10:g.73653544C>T | NCBI36 |
| NG_011690.1:g.192157C>T , LRG_741:g.192157C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.10651C>T | ENSP00000507671.1:p.Arg3551Trp | |
| ENST00000682801.1:c.10651C>T | ENSP00000507862.1:p.Arg3551Trp | |
| ENST00000682859.1:c.10651C>T | ENSP00000508222.1:p.Arg3551Trp | |
| ENST00000683791.1:c.3737C>T | ||
| ENST00000684460.1:c.7932C>T | ||
| ENST00000684548.1:c.10651C>T | ENSP00000507421.1:p.Arg3551Trp | |
| ENST00000684590.1:c.5098C>T | ENSP00000507376.1:p.Arg1700Trp | |
| ENST00000684656.1:c.7977C>T | ||
| ENST00000613296.6:c.11032C>T MANE Select | ENSP00000482968.1:p.Arg3678Trp | |
| ENST00000651057.1:c.1186C>T | ENSP00000498504.1:p.Arg396Trp | |
| ENST00000651434.1:c.2388C>T | ||
| ENST00000651750.1:c.420C>T | ||
| ENST00000652487.1:c.2129C>T | ||
| ENST00000423048.5:c.4523C>T | ENSP00000399833.1:n.4523C>T | |
| ENST00000484298.5:c.10906C>T | ENSP00000478155.1:p.Arg3636Trp | |
| ENST00000613296.4:c.11032C>T | ENSP00000482968.1:p.Arg3678Trp | |
| ENST00000614410.4:c.11032C>T | ENSP00000479094.1:p.Arg3678Trp | |
| ENST00000620466.4:n.4835C>T | ||
| NM_015120.4:c.11035C>T , LRG_741t1:c.11035C>T | NP_055935.4:p.Arg3679Trp | |
| NM_001378454.1:c.11032C>T MANE Select | NP_001365383.1:p.Arg3678Trp |