Linked Data
ClinVar Variation Id:
342036
dbSNP Id:
rs76848348
ExAC:
22:50297246 C / T
gnomAD v2:
22-50297246-C-T
gnomAD v3:
22-49903598-C-T
gnomAD v4:
22-49903598-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.49903598C>T , CM000684.2:g.49903598C>T | GRCh38 |
| NC_000022.10:g.50297246C>T , CM000684.1:g.50297246C>T | GRCh37 |
| NC_000022.9:g.48683250C>T | NCBI36 |
| NG_008927.1:g.19861G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330817.11:c.*240G>A MANE Select | ENSP00000333813.5:n.*240G>A | |
| ENST00000330817.10:c.*240G>A | ENSP00000333813.5:n.*240G>A | |
| NM_024105.3:c.*240G>A | NP_077010.1:n.*240G>A | |
| XM_011530369.1:c.1238+581G>A | XP_011528671.1:n.1238+581G>A | |
| XM_011530370.1:c.1238+581G>A | XP_011528672.1:n.1238+581G>A | |
| XM_017028936.1:c.1238+581G>A | XP_016884425.1:n.1238+581G>A | |
| XM_017028937.1:c.1238+581G>A | XP_016884426.1:n.1238+581G>A | |
| NM_024105.4:c.*240G>A MANE Select | NP_077010.1:n.*240G>A |