Linked Data
ClinVar Variation Id:
342202
ClinVar RCV Id:
RCV000406407
dbSNP Id:
rs190478606
gnomAD v2:
22-51062201-C-A
gnomAD v3:
22-50623773-C-A
gnomAD v4:
22-50623773-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50623773C>A , CM000684.2:g.50623773C>A | GRCh38 |
| NC_000022.10:g.51062201C>A , CM000684.1:g.51062201C>A | GRCh37 |
| NC_000022.9:g.49409067C>A | NCBI36 |
| NG_009260.2:g.9407G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000216124.10:c.*1372G>T MANE Select | ENSP00000216124.5:n.*1372G>T | |
| ENST00000608497.1:c.302+1G>T | ||
| NM_000487.5:c.*1372G>T | NP_000478.3:n.*1372G>T | |
| NM_001085425.2:c.*1372G>T | NP_001078894.2:n.*1372G>T | |
| NM_001085426.2:c.*1372G>T | NP_001078895.2:n.*1372G>T | |
| NM_001085427.2:c.*1372G>T | NP_001078896.2:n.*1372G>T | |
| NM_001085428.2:c.*1372G>T | NP_001078897.1:n.*1372G>T | |
| NM_001362782.1:c.*1372G>T | NP_001349711.1:n.*1372G>T | |
| NM_000487.6:c.*1372G>T MANE Select | NP_000478.3:n.*1372G>T | |
| NM_001085425.3:c.*1372G>T | NP_001078894.2:n.*1372G>T | |
| NM_001085426.3:c.*1372G>T | NP_001078895.2:n.*1372G>T | |
| NM_001085427.3:c.*1372G>T | NP_001078896.2:n.*1372G>T | |
| NM_001085428.3:c.*1372G>T | NP_001078897.1:n.*1372G>T | |
| NM_001362782.2:c.*1372G>T | NP_001349711.1:n.*1372G>T |