Linked Data
ClinVar Variation Id:
304921
ClinVar RCV Id:
RCV000378472
dbSNP Id:
rs761699363
ExAC:
11:47256845 G / A
gnomAD v2:
11-47256845-G-A
gnomAD v3:
11-47235294-G-A
gnomAD v4:
11-47235294-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47235294G>A , CM000673.2:g.47235294G>A | GRCh38 |
| NC_000011.9:g.47256845G>A , CM000673.1:g.47256845G>A | GRCh37 |
| NC_000011.8:g.47213421G>A | NCBI36 |
| NG_009365.1:g.25353G>A , LRG_467:g.25353G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256996.9:c.905G>A MANE Select | ENSP00000256996.4:p.Arg302Gln | |
| ENST00000256996.8:c.905G>A | ENSP00000256996.3:p.Arg302Gln | |
| ENST00000378600.7:c.457-2543G>A | ENSP00000367863.3:n.457-2543G>A | |
| ENST00000378601.7:c.727G>A | ENSP00000367864.3:p.Gly243Ser | |
| ENST00000378603.7:c.713G>A | ENSP00000367866.3:p.Arg238Gln | |
| ENST00000612309.4:n.2354G>A | ||
| ENST00000614394.1:n.295G>A | ||
| ENST00000616278.4:c.581G>A | ENSP00000478411.1:n.581G>A | |
| ENST00000617022.4:n.1554-2543G>A | ||
| ENST00000617847.4:c.834G>A | ||
| ENST00000620515.1:n.71G>A | ||
| NM_000107.2:c.905G>A , LRG_467t1:c.905G>A | NP_000098.1:p.Arg302Gln | |
| NM_001300734.1:c.457-2543G>A | NP_001287663.1:n.457-2543G>A | |
| XR_242780.3:n.895G>A | ||
| XR_242780.4:n.895G>A | ||
| NM_000107.3:c.905G>A MANE Select | NP_000098.1:p.Arg302Gln | |
| NM_001300734.2:c.457-2543G>A | NP_001287663.1:n.457-2543G>A | |
| NM_001399874.1:c.905G>A | NP_001386803.1:p.Arg302Gln | |
| NM_001399875.1:c.905G>A | NP_001386804.1:p.Arg302Gln | |
| NM_001399876.1:c.457-2543G>A | NP_001386805.1:n.457-2543G>A | |
| NM_001399878.1:c.713G>A | NP_001386807.1:p.Arg238Gln | |
| NR_174610.1:n.1156G>A | ||
| NR_174611.1:n.1134G>A |