Linked Data
ClinVar Variation Id:
511415
dbSNP Id:
rs777706370
ExAC:
2:73761932 C / A
gnomAD v2:
2-73761932-C-A
gnomAD v3:
2-73534805-C-A
gnomAD v4:
2-73534805-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73534805C>A , CM000664.2:g.73534805C>A | GRCh38 |
| NC_000002.11:g.73761932C>A , CM000664.1:g.73761932C>A | GRCh37 |
| NC_000002.10:g.73615440C>A | NCBI36 |
| NG_011690.1:g.154053C>A , LRG_741:g.154053C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.9401-19C>A | ENSP00000507671.1:n.9401-19C>A | |
| ENST00000682801.1:c.9401-19C>A | ENSP00000507862.1:n.9401-19C>A | |
| ENST00000682859.1:c.9401-19C>A | ENSP00000508222.1:n.9401-19C>A | |
| ENST00000683791.1:c.2793-19C>A | ||
| ENST00000684460.1:c.6853-19C>A | ||
| ENST00000684548.1:c.9401-19C>A | ENSP00000507421.1:n.9401-19C>A | |
| ENST00000684590.1:c.3848-19C>A | ENSP00000507376.1:n.3848-19C>A | |
| ENST00000684656.1:c.6852+14789C>A | ||
| ENST00000613296.6:c.9782-19C>A MANE Select | ENSP00000482968.1:n.9782-19C>A | |
| ENST00000651057.1:c.61+14789C>A | ENSP00000498504.1:n.61+14789C>A | |
| ENST00000651434.1:c.1138-19C>A | ||
| ENST00000652487.1:c.879-19C>A | ||
| ENST00000423048.5:c.3273-19C>A | ENSP00000399833.1:n.3273-19C>A | |
| ENST00000476650.2:n.73-19C>A | ||
| ENST00000484298.5:c.9656-19C>A | ENSP00000478155.1:n.9656-19C>A | |
| ENST00000613296.4:c.9782-19C>A | ENSP00000482968.1:n.9782-19C>A | |
| ENST00000614410.4:c.9782-19C>A | ENSP00000479094.1:n.9782-19C>A | |
| ENST00000620466.4:n.3585-19C>A | ||
| NM_015120.4:c.9785-19C>A , LRG_741t1:c.9785-19C>A | NP_055935.4:n.9785-19C>A | |
| NM_001378454.1:c.9782-19C>A MANE Select | NP_001365383.1:n.9782-19C>A |