Linked Data
ClinVar Variation Id:
342232
ClinVar RCV Id:
RCV000327902
dbSNP Id:
rs886057656
gnomAD v4:
22-50625020-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50625020G>C , CM000684.2:g.50625020G>C | GRCh38 |
| NC_000022.10:g.51063448G>C , CM000684.1:g.51063448G>C | GRCh37 |
| NC_000022.9:g.49410314G>C | NCBI36 |
| NG_009260.2:g.8160C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000216124.10:c.*125C>G MANE Select | ENSP00000216124.5:n.*125C>G | |
| ENST00000216124.9:c.*125C>G | ENSP00000216124.5:n.*125C>G | |
| ENST00000356098.9:c.*125C>G | ENSP00000348406.5:n.*125C>G | |
| ENST00000608497.1:c.180+343C>G | ||
| NM_000487.5:c.*125C>G | NP_000478.3:n.*125C>G | |
| NM_001085425.2:c.*125C>G | NP_001078894.2:n.*125C>G | |
| NM_001085426.2:c.*125C>G | NP_001078895.2:n.*125C>G | |
| NM_001085427.2:c.*125C>G | NP_001078896.2:n.*125C>G | |
| NM_001085428.2:c.*125C>G | NP_001078897.1:n.*125C>G | |
| NM_001362782.1:c.*125C>G | NP_001349711.1:n.*125C>G | |
| NM_000487.6:c.*125C>G MANE Select | NP_000478.3:n.*125C>G | |
| NM_001085425.3:c.*125C>G | NP_001078894.2:n.*125C>G | |
| NM_001085426.3:c.*125C>G | NP_001078895.2:n.*125C>G | |
| NM_001085427.3:c.*125C>G | NP_001078896.2:n.*125C>G | |
| NM_001085428.3:c.*125C>G | NP_001078897.1:n.*125C>G | |
| NM_001362782.2:c.*125C>G | NP_001349711.1:n.*125C>G |