Linked Data
ClinVar Variation Id:
292876
dbSNP Id:
rs41267425
ExAC:
1:156836782 C / A
gnomAD v2:
1-156836782-C-A
gnomAD v3:
1-156866990-C-A
gnomAD v4:
1-156866990-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156866990C>A , CM000663.2:g.156866990C>A | GRCh38 |
| NC_000001.10:g.156836782C>A , CM000663.1:g.156836782C>A | GRCh37 |
| NC_000001.9:g.155103406C>A | NCBI36 |
| NG_007493.1:g.56241C>A , LRG_261:g.56241C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000674537.2:c.266+12C>A | ENSP00000502725.1:n.266+12C>A | |
| ENST00000392302.7:c.266+12C>A | ENSP00000376120.3:n.266+12C>A | |
| ENST00000497019.7:c.266+12C>A | ENSP00000436804.2:n.266+12C>A | |
| ENST00000524377.7:c.428+12C>A MANE Select | ENSP00000431418.1:n.428+12C>A | |
| ENST00000674537.1:c.266+12C>A | ENSP00000502725.1:n.266+12C>A | |
| ENST00000358660.3:c.428+12C>A | ENSP00000351486.3:n.428+12C>A | |
| ENST00000368196.7:c.428+12C>A | ENSP00000357179.3:n.428+12C>A | |
| ENST00000392302.6:c.338+12C>A | ENSP00000376120.2:n.338+12C>A | |
| ENST00000489021.6:n.313-6643C>A | ||
| ENST00000497019.6:c.338+12C>A | ENSP00000436804.1:n.338+12C>A | |
| ENST00000524377.5:c.428+12C>A | ENSP00000431418.1:n.428+12C>A | |
| ENST00000530298.5:n.486+12C>A | ||
| NM_001007792.1:c.338+12C>A , LRG_261t1:c.338+12C>A | NP_001007793.1:n.338+12C>A | |
| NM_001012331.1:c.428+12C>A , LRG_261t2:c.428+12C>A | NP_001012331.1:n.428+12C>A | |
| NM_002529.3:c.428+12C>A , LRG_261t3:c.428+12C>A | NP_002520.2:n.428+12C>A | |
| NM_001012331.2:c.428+12C>A | NP_001012331.1:n.428+12C>A | |
| NM_002529.4:c.428+12C>A MANE Select | NP_002520.2:n.428+12C>A |