Linked Data
ClinVar Variation Id:
1114784
ClinVar RCV Id:
RCV001442611
dbSNP Id:
rs1908181707
gnomAD v4:
17-72123670-C-A
MyVariant Identifiers:
chr17:g.70119811C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.72123670C>A , CM000679.2:g.72123670C>A | GRCh38 |
| NC_000017.10:g.70119811C>A , CM000679.1:g.70119811C>A | GRCh37 |
| NC_000017.9:g.67631406C>A | NCBI36 |
| NG_012490.1:g.7651C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245479.3:c.813C>A MANE Select | ENSP00000245479.2:p.Arg271= | |
| ENST00000245479.2:c.813C>A | ENSP00000245479.2:p.Arg271= | |
| NM_000346.3:c.813C>A | NP_000337.1:p.Arg271= | |
| NM_000346.4:c.813C>A MANE Select | NP_000337.1:p.Arg271= |