Linked Data
ClinVar Variation Id:
325231
ClinVar RCV Id:
RCV000331304
dbSNP Id:
rs756263074
ExAC:
17:73758792 C / T
gnomAD v2:
17-73758792-C-T
gnomAD v3:
17-75762711-C-T
gnomAD v4:
17-75762711-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75762711C>T , CM000679.2:g.75762711C>T | GRCh38 |
| NC_000017.10:g.73758792C>T , CM000679.1:g.73758792C>T | GRCh37 |
| NC_000017.9:g.71270387C>T | NCBI36 |
| NG_008079.1:g.7489G>A | |
| NG_008079.2:g.7489G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000587707.2:c.818G>A | ENSP00000468341.2:n.818G>A | |
| ENST00000592997.6:c.696G>A | ENSP00000464765.2:p.Glu232= | |
| ENST00000588479.6:c.786G>A MANE Select | ENSP00000465930.1:p.Glu262= | |
| ENST00000225614.6:c.786G>A | ENSP00000225614.1:p.Glu262= | |
| ENST00000587707.1:c.572G>A | ENSP00000468341.1:n.572G>A | |
| ENST00000588479.5:c.786G>A | ENSP00000465930.1:p.Glu262= | |
| ENST00000592494.1:n.1105G>A | ||
| ENST00000592997.5:c.162G>A | ENSP00000464765.1:p.Glu54= | |
| NM_000154.1:c.786G>A | NP_000145.1:p.Glu262= | |
| NM_000154.2:c.786G>A MANE Select | NP_000145.1:p.Glu262= | |
| NM_001381985.1:c.786G>A | NP_001368914.1:p.Glu262= |