Linked Data
ClinVar Variation Id:
2203100
ClinVar RCV Id:
RCV002664242
dbSNP Id:
rs45544032
ExAC:
2:73716848 C / T
gnomAD v2:
2-73716848-C-T
gnomAD v3:
2-73489721-C-T
gnomAD v4:
2-73489721-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73489721C>T , CM000664.2:g.73489721C>T | GRCh38 |
| NC_000002.11:g.73716848C>T , CM000664.1:g.73716848C>T | GRCh37 |
| NC_000002.10:g.73570356C>T | NCBI36 |
| NG_011690.1:g.108969C>T , LRG_741:g.108969C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.7381C>T | ENSP00000507671.1:p.Arg2461Trp | |
| ENST00000682801.1:c.7381C>T | ENSP00000507862.1:p.Arg2461Trp | |
| ENST00000682859.1:c.7381C>T | ENSP00000508222.1:p.Arg2461Trp | |
| ENST00000683791.1:c.773C>T | ||
| ENST00000684460.1:c.4833C>T | ||
| ENST00000684548.1:c.7381C>T | ENSP00000507421.1:p.Arg2461Trp | |
| ENST00000684590.1:c.1828C>T | ENSP00000507376.1:p.Arg610Trp | |
| ENST00000684656.1:c.4833C>T | ||
| ENST00000613296.6:c.7762C>T MANE Select | ENSP00000482968.1:p.Arg2588Trp | |
| ENST00000651434.1:c.896-30054C>T | ||
| ENST00000423048.5:c.2593C>T | ENSP00000399833.1:p.Arg865Trp | |
| ENST00000484298.5:c.7636C>T | ENSP00000478155.1:p.Arg2546Trp | |
| ENST00000613296.4:c.7762C>T | ENSP00000482968.1:p.Arg2588Trp | |
| ENST00000614410.4:c.7762C>T | ENSP00000479094.1:p.Arg2588Trp | |
| ENST00000620466.4:n.1565C>T | ||
| NM_015120.4:c.7765C>T , LRG_741t1:c.7765C>T | NP_055935.4:p.Arg2589Trp | |
| NM_001378454.1:c.7762C>T MANE Select | NP_001365383.1:p.Arg2588Trp |