Linked Data
ClinVar Variation Id:
1384308
ClinVar RCV Id:
RCV001895900
dbSNP Id:
rs751690259
ExAC:
17:70119781 G / C
gnomAD v2:
17-70119781-G-C
gnomAD v3:
17-72123640-G-C
gnomAD v4:
17-72123640-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.72123640G>C , CM000679.2:g.72123640G>C | GRCh38 |
| NC_000017.10:g.70119781G>C , CM000679.1:g.70119781G>C | GRCh37 |
| NC_000017.9:g.67631376G>C | NCBI36 |
| NG_012490.1:g.7621G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245479.3:c.783G>C MANE Select | ENSP00000245479.2:p.Glu261Asp | |
| ENST00000245479.2:c.783G>C | ENSP00000245479.2:p.Glu261Asp | |
| NM_000346.3:c.783G>C | NP_000337.1:p.Glu261Asp | |
| NM_000346.4:c.783G>C MANE Select | NP_000337.1:p.Glu261Asp |