Linked Data
ClinVar Variation Id:
567242
ClinVar RCV Id:
RCV000687261
dbSNP Id:
rs780964425
ExAC:
15:65369928 C / T
gnomAD v2:
15-65369928-C-T
gnomAD v3:
15-65077590-C-T
gnomAD v4:
15-65077590-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.65077590C>T , CM000677.2:g.65077590C>T | GRCh38 |
| NC_000015.9:g.65369928C>T , CM000677.1:g.65369928C>T | GRCh37 |
| NC_000015.8:g.63156981C>T | NCBI36 |
| NG_021411.1:g.5775C>T , LRG_682:g.5775C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000432196.5:c.775C>T MANE Select | ENSP00000388723.2:p.Arg259Cys | |
| ENST00000432196.3:c.775C>T | ENSP00000388723.2:p.Arg259Cys | |
| NM_001101362.2:c.775C>T , LRG_682t1:c.775C>T | NP_001094832.1:p.Arg259Cys | |
| NM_001101362.3:c.775C>T MANE Select | NP_001094832.1:p.Arg259Cys |