Linked Data
ClinVar Variation Id:
1050710
ClinVar RCV Id:
RCV001358474
dbSNP Id:
rs1953701307
gnomAD v4:
11-47234848-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47234848A>G , CM000673.2:g.47234848A>G | GRCh38 |
| NC_000011.9:g.47256399A>G , CM000673.1:g.47256399A>G | GRCh37 |
| NC_000011.8:g.47212975A>G | NCBI36 |
| NG_009365.1:g.24907A>G , LRG_467:g.24907A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256996.9:c.794A>G MANE Select | ENSP00000256996.4:p.Gln265Arg | |
| ENST00000256996.8:c.794A>G | ENSP00000256996.3:p.Gln265Arg | |
| ENST00000378600.7:c.457-2989A>G | ENSP00000367863.3:n.457-2989A>G | |
| ENST00000378601.7:c.702+176A>G | ENSP00000367864.3:n.702+176A>G | |
| ENST00000378603.7:c.602A>G | ENSP00000367866.3:p.Gln201Arg | |
| ENST00000612309.4:n.1908A>G | ||
| ENST00000614394.1:n.184A>G | ||
| ENST00000616278.4:c.556+176A>G | ENSP00000478411.1:n.556+176A>G | |
| ENST00000617022.4:n.1554-2989A>G | ||
| ENST00000617847.4:c.723A>G | ||
| ENST00000620515.1:n.46+176A>G | ||
| NM_000107.2:c.794A>G , LRG_467t1:c.794A>G | NP_000098.1:p.Gln265Arg | |
| NM_001300734.1:c.457-2989A>G | NP_001287663.1:n.457-2989A>G | |
| XR_242780.3:n.870+176A>G | ||
| XR_242780.4:n.870+176A>G | ||
| NM_000107.3:c.794A>G MANE Select | NP_000098.1:p.Gln265Arg | |
| NM_001300734.2:c.457-2989A>G | NP_001287663.1:n.457-2989A>G | |
| NM_001399874.1:c.794A>G | NP_001386803.1:p.Gln265Arg | |
| NM_001399875.1:c.794A>G | NP_001386804.1:p.Gln265Arg | |
| NM_001399876.1:c.457-2989A>G | NP_001386805.1:n.457-2989A>G | |
| NM_001399878.1:c.602A>G | NP_001386807.1:p.Gln201Arg | |
| NR_174610.1:n.1131+176A>G | ||
| NR_174611.1:n.1081A>G |