Linked Data
ClinVar Variation Id:
1719685
ClinVar RCV Id:
RCV002303916
dbSNP Id:
rs758252719
gnomAD v4:
15-65077583-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.65077583C>A , CM000677.2:g.65077583C>A | GRCh38 |
| NC_000015.9:g.65369921C>A , CM000677.1:g.65369921C>A | GRCh37 |
| NC_000015.8:g.63156974C>A | NCBI36 |
| NG_021411.1:g.5768C>A , LRG_682:g.5768C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000432196.5:c.768C>A MANE Select | ENSP00000388723.2:p.Phe256Leu | |
| ENST00000432196.3:c.768C>A | ENSP00000388723.2:p.Phe256Leu | |
| NM_001101362.2:c.768C>A , LRG_682t1:c.768C>A | NP_001094832.1:p.Phe256Leu | |
| NM_001101362.3:c.768C>A MANE Select | NP_001094832.1:p.Phe256Leu |