Linked Data
ClinVar Variation Id:
189228
dbSNP Id:
rs199752932
ExAC:
15:45389434 A / G
gnomAD v2:
15-45389434-A-G
gnomAD v3:
15-45097236-A-G
gnomAD v4:
15-45097236-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.45097236A>G , CM000677.2:g.45097236A>G | GRCh38 |
| NC_000015.9:g.45389434A>G , CM000677.1:g.45389434A>G | GRCh37 |
| NC_000015.8:g.43176726A>G | NCBI36 |
| NG_009447.1:g.21926T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000389039.11:c.3847+2T>C MANE Select | ENSP00000373691.7:n.3847+2T>C | |
| ENST00000389039.10:c.3847+2T>C | ENSP00000373691.6:n.3847+2T>C | |
| ENST00000603300.1:c.3847+2T>C | ENSP00000475084.1:n.3847+2T>C | |
| NM_014080.4:c.3847+2T>C | NP_054799.4:n.3847+2T>C | |
| XM_005254421.2:c.3847+2T>C | XP_005254478.1:n.3847+2T>C | |
| NM_001363711.1:c.3847+2T>C | NP_001350640.1:n.3847+2T>C | |
| NM_001363711.2:c.3847+2T>C MANE Select | NP_001350640.1:n.3847+2T>C | |
| NM_014080.5:c.3847+2T>C | NP_054799.4:n.3847+2T>C |