Linked Data
ClinVar Variation Id:
93782
ClinVar RCV Id:
RCV000079720
dbSNP Id:
rs398123626
ExAC:
16:68729724 G / A
gnomAD v2:
16-68729724-G-A
gnomAD v4:
16-68695821-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68695821G>A , CM000678.2:g.68695821G>A | GRCh38 |
| NC_000016.9:g.68729724G>A , CM000678.1:g.68729724G>A | GRCh37 |
| NC_000016.8:g.67287225G>A | NCBI36 |
| NG_009096.1:g.56574G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264012.9:c.2178G>A MANE Select | ENSP00000264012.4:p.Pro726= | |
| ENST00000264012.8:c.2178G>A | ENSP00000264012.4:p.Pro726= | |
| ENST00000429102.6:c.2178G>A | ENSP00000398485.2:p.Pro726= | |
| ENST00000542274.5:c.*1916G>A | ENSP00000464021.1:n.*1916G>A | |
| ENST00000567674.1:c.508G>A | ||
| ENST00000568292.1:c.257G>A | ||
| NM_001793.4:c.2178G>A | NP_001784.2:p.Pro726= | |
| XM_011522800.1:c.2178G>A | XP_011521102.1:p.Pro726= | |
| NM_001317195.1:c.2178G>A | NP_001304124.1:p.Pro726= | |
| NM_001317196.1:c.2013G>A | NP_001304125.1:p.Pro671= | |
| NM_001793.5:c.2178G>A | NP_001784.2:p.Pro726= | |
| XM_011522800.3:c.2178G>A | XP_011521102.1:p.Pro726= | |
| NM_001793.6:c.2178G>A MANE Select | NP_001784.2:p.Pro726= | |
| NM_001317195.2:c.2178G>A | NP_001304124.1:p.Pro726= | |
| NM_001317196.2:c.2013G>A | NP_001304125.1:p.Pro671= | |
| NM_001317195.3:c.2178G>A | NP_001304124.1:p.Pro726= |