Linked Data
ClinVar Variation Id:
252528
ClinVar RCV Id:
RCV000239313
dbSNP Id:
rs775112986
ExAC:
17:54892277 G / A
gnomAD v2:
17-54892277-G-A
gnomAD v3:
17-56814916-G-A
gnomAD v4:
17-56814916-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.56814916G>A , CM000679.2:g.56814916G>A | GRCh38 |
| NC_000017.10:g.54892277G>A , CM000679.1:g.54892277G>A | GRCh37 |
| NC_000017.9:g.52247276G>A | NCBI36 |
| NG_054932.1:g.24075C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397861.7:c.109C>T MANE Select | ENSP00000380959.2:p.Arg37Ter | |
| ENST00000397861.6:c.109C>T | ENSP00000380959.2:p.Arg37Ter | |
| NM_001085430.2:c.109C>T | NP_001078899.2:p.Arg37Ter | |
| NM_001085430.3:c.109C>T | NP_001078899.2:p.Arg37Ter | |
| NM_001085430.4:c.109C>T MANE Select | NP_001078899.2:p.Arg37Ter |