Linked Data
ClinVar Variation Id:
1683939
ClinVar RCV Id:
RCV002244461
dbSNP Id:
rs375783267
gnomAD v3:
17-35844363-G-A
gnomAD v4:
17-35844363-G-A
MyVariant Identifiers:
chr17:g.35844363G>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.35844363G>A , CM000679.2:g.35844363G>A | GRCh38 |
| NC_000017.9:g.31195480G>A | NCBI36 |
| NG_023279.1:g.39880G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000603067.6:n.3652G>A | ||
| ENST00000603393.6:c.*492G>A | ENSP00000474653.2:n.*492G>A | |
| ENST00000603777.6:c.*670G>A | ENSP00000474522.2:n.*670G>A | |
| ENST00000604694.2:c.*498G>A | ENSP00000475147.2:n.*498G>A | |
| ENST00000687618.1:n.550G>A | ||
| ENST00000689923.1:n.1429G>A | ||
| ENST00000605844.6:c.1172G>A MANE Select | ENSP00000474096.1:p.Gly391Glu | |
| ENST00000603777.5:c.899G>A | ENSP00000474522.1:p.Gly300Glu | |
| ENST00000604694.1:c.166G>A | ||
| ENST00000604841.5:c.1163G>A | ENSP00000474609.1:p.Gly388Glu | |
| ENST00000605844.5:c.1172G>A | ENSP00000474096.1:p.Gly391Glu | |
| NM_003487.3:c.1163G>A | NP_003478.1:p.Gly388Glu | |
| NM_139215.2:c.1172G>A | NP_631961.1:p.Gly391Glu | |
| XM_011525314.1:c.1172G>A | XP_011523616.1:p.Gly391Glu | |
| XM_011525315.1:c.899G>A | XP_011523617.1:p.Gly300Glu | |
| XM_024450959.1:c.365G>A | XP_024306727.1:p.Gly122Glu | |
| NM_139215.3:c.1172G>A MANE Select | NP_631961.1:p.Gly391Glu | |
| NM_003487.4:c.1163G>A | NP_003478.1:p.Gly388Glu |