Linked Data
ClinVar Variation Id:
8787
ClinVar RCV Id:
RCV000009332
dbSNP Id:
rs121434639
gnomAD v4:
11-47234784-A-G
PubMed:
PMID:10585395
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47234784A>G , CM000673.2:g.47234784A>G | GRCh38 |
| NC_000011.9:g.47256335A>G , CM000673.1:g.47256335A>G | GRCh37 |
| NC_000011.8:g.47212911A>G | NCBI36 |
| NG_009365.1:g.24843A>G , LRG_467:g.24843A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256996.9:c.730A>G MANE Select | ENSP00000256996.4:p.Lys244Glu | |
| ENST00000256996.8:c.730A>G | ENSP00000256996.3:p.Lys244Glu | |
| ENST00000378600.7:c.457-3053A>G | ENSP00000367863.3:n.457-3053A>G | |
| ENST00000378601.7:c.702+112A>G | ENSP00000367864.3:n.702+112A>G | |
| ENST00000378603.7:c.538A>G | ENSP00000367866.3:p.Lys180Glu | |
| ENST00000612309.4:n.1844A>G | ||
| ENST00000614394.1:n.120A>G | ||
| ENST00000616278.4:c.556+112A>G | ENSP00000478411.1:n.556+112A>G | |
| ENST00000617022.4:n.1554-3053A>G | ||
| ENST00000617847.4:c.659A>G | ||
| ENST00000620515.1:n.46+112A>G | ||
| NM_000107.2:c.730A>G , LRG_467t1:c.730A>G | NP_000098.1:p.Lys244Glu | |
| NM_001300734.1:c.457-3053A>G | NP_001287663.1:n.457-3053A>G | |
| XR_242780.3:n.870+112A>G | ||
| XR_242780.4:n.870+112A>G | ||
| NM_000107.3:c.730A>G MANE Select | NP_000098.1:p.Lys244Glu | |
| NM_001300734.2:c.457-3053A>G | NP_001287663.1:n.457-3053A>G | |
| NM_001399874.1:c.730A>G | NP_001386803.1:p.Lys244Glu | |
| NM_001399875.1:c.730A>G | NP_001386804.1:p.Lys244Glu | |
| NM_001399876.1:c.457-3053A>G | NP_001386805.1:n.457-3053A>G | |
| NM_001399878.1:c.538A>G | NP_001386807.1:p.Lys180Glu | |
| NR_174610.1:n.1131+112A>G | ||
| NR_174611.1:n.1017A>G |