Linked Data
ClinVar Variation Id:
321164
dbSNP Id:
rs377050219
ExAC:
16:88876936 G / T
gnomAD v2:
16-88876936-G-T
gnomAD v3:
16-88810528-G-T
gnomAD v4:
16-88810528-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88810528G>T , CM000678.2:g.88810528G>T | GRCh38 |
| NC_000016.9:g.88876936G>T , CM000678.1:g.88876936G>T | GRCh37 |
| NC_000016.8:g.87404437G>T | NCBI36 |
| NG_008013.1:g.6407C>A | |
| NG_028266.1:g.11751G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378364.8:c.216C>A MANE Select | ENSP00000367615.3:p.Gly72= | |
| ENST00000378364.7:c.216C>A | ENSP00000367615.3:p.Gly72= | |
| ENST00000426324.6:c.216C>A | ENSP00000397007.2:p.Gly72= | |
| ENST00000562464.1:n.332-380C>A | ||
| ENST00000563655.5:c.241-380C>A | ENSP00000456012.1:n.241-380C>A | |
| ENST00000567391.5:c.188-380C>A | ENSP00000457964.1:n.188-380C>A | |
| ENST00000567713.5:c.216C>A | ENSP00000455749.1:p.Gly72= | |
| ENST00000568319.5:c.188-380C>A | ENSP00000456905.1:n.188-380C>A | |
| ENST00000569616.1:c.214C>A | ||
| NM_000485.2:c.216C>A | NP_000476.1:p.Gly72= | |
| NM_001030018.1:c.216C>A | NP_001025189.1:p.Gly72= | |
| NM_000485.3:c.216C>A MANE Select | NP_000476.1:p.Gly72= | |
| NM_001030018.2:c.216C>A | NP_001025189.1:p.Gly72= |