Linked Data
ClinVar Variation Id:
342230
ClinVar RCV Id:
RCV000376714
dbSNP Id:
rs537362532
gnomAD v2:
22-51063382-G-C
gnomAD v3:
22-50624954-G-C
gnomAD v4:
22-50624954-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50624954G>C , CM000684.2:g.50624954G>C | GRCh38 |
| NC_000022.10:g.51063382G>C , CM000684.1:g.51063382G>C | GRCh37 |
| NC_000022.9:g.49410248G>C | NCBI36 |
| NG_009260.2:g.8226C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000216124.10:c.*191C>G MANE Select | ENSP00000216124.5:n.*191C>G | |
| ENST00000608497.1:c.180+409C>G | ||
| NM_000487.5:c.*191C>G | NP_000478.3:n.*191C>G | |
| NM_001085425.2:c.*191C>G | NP_001078894.2:n.*191C>G | |
| NM_001085426.2:c.*191C>G | NP_001078895.2:n.*191C>G | |
| NM_001085427.2:c.*191C>G | NP_001078896.2:n.*191C>G | |
| NM_001085428.2:c.*191C>G | NP_001078897.1:n.*191C>G | |
| NM_001362782.1:c.*191C>G | NP_001349711.1:n.*191C>G | |
| NM_000487.6:c.*191C>G MANE Select | NP_000478.3:n.*191C>G | |
| NM_001085425.3:c.*191C>G | NP_001078894.2:n.*191C>G | |
| NM_001085426.3:c.*191C>G | NP_001078895.2:n.*191C>G | |
| NM_001085427.3:c.*191C>G | NP_001078896.2:n.*191C>G | |
| NM_001085428.3:c.*191C>G | NP_001078897.1:n.*191C>G | |
| NM_001362782.2:c.*191C>G | NP_001349711.1:n.*191C>G |