Linked Data
ClinVar Variation Id:
899695
ClinVar RCV Id:
RCV001144424
dbSNP Id:
rs144366706
gnomAD v2:
22-51063408-C-T
gnomAD v3:
22-50624980-C-T
gnomAD v4:
22-50624980-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50624980C>T , CM000684.2:g.50624980C>T | GRCh38 |
| NC_000022.10:g.51063408C>T , CM000684.1:g.51063408C>T | GRCh37 |
| NC_000022.9:g.49410274C>T | NCBI36 |
| NG_009260.2:g.8200G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000216124.10:c.*165G>A MANE Select | ENSP00000216124.5:n.*165G>A | |
| ENST00000608497.1:c.180+383G>A | ||
| NM_000487.5:c.*165G>A | NP_000478.3:n.*165G>A | |
| NM_001085425.2:c.*165G>A | NP_001078894.2:n.*165G>A | |
| NM_001085426.2:c.*165G>A | NP_001078895.2:n.*165G>A | |
| NM_001085427.2:c.*165G>A | NP_001078896.2:n.*165G>A | |
| NM_001085428.2:c.*165G>A | NP_001078897.1:n.*165G>A | |
| NM_001362782.1:c.*165G>A | NP_001349711.1:n.*165G>A | |
| NM_000487.6:c.*165G>A MANE Select | NP_000478.3:n.*165G>A | |
| NM_001085425.3:c.*165G>A | NP_001078894.2:n.*165G>A | |
| NM_001085426.3:c.*165G>A | NP_001078895.2:n.*165G>A | |
| NM_001085427.3:c.*165G>A | NP_001078896.2:n.*165G>A | |
| NM_001085428.3:c.*165G>A | NP_001078897.1:n.*165G>A | |
| NM_001362782.2:c.*165G>A | NP_001349711.1:n.*165G>A |