Linked Data
ClinVar Variation Id:
968817
ClinVar RCV Id:
RCV001244038
dbSNP Id:
rs1198936842
gnomAD v2:
19-50365080-C-T
gnomAD v3:
19-49861823-C-T
gnomAD v4:
19-49861823-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49861823C>T , CM000681.2:g.49861823C>T | GRCh38 |
| NC_000019.9:g.50365080C>T , CM000681.1:g.50365080C>T | GRCh37 |
| NC_000019.8:g.55056892C>T | NCBI36 |
| NG_027717.1:g.10743G>A | |
| NG_050666.1:g.17980C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322344.8:c.1247G>A MANE Select | ENSP00000323511.2:p.Gly416Glu | |
| ENST00000322344.7:c.1247G>A | ENSP00000323511.2:p.Gly416Glu | |
| ENST00000593706.3:n.843G>A | ||
| ENST00000593946.5:c.*1174G>A | ENSP00000468896.1:n.*1174G>A | |
| ENST00000594661.5:n.1748G>A | ||
| ENST00000595081.5:n.74G>A | ||
| ENST00000596014.5:c.1247G>A | ENSP00000472300.1:p.Gly416Glu | |
| ENST00000599454.5:n.91G>A | ||
| ENST00000600573.5:c.1154G>A | ENSP00000469826.1:p.Gly385Glu | |
| ENST00000600910.5:c.1189-128G>A | ENSP00000473137.1:n.1189-128G>A | |
| ENST00000601816.3:n.146G>A | ||
| ENST00000625216.2:c.328G>A | ENSP00000486898.1:n.328G>A | |
| ENST00000627232.2:c.1167G>A | ENSP00000486037.1:n.1167G>A | |
| ENST00000631020.2:c.1139G>A | ENSP00000486707.1:p.Gly380Glu | |
| NM_007254.3:c.1247G>A | NP_009185.2:p.Gly416Glu | |
| NM_007254.4:c.1247G>A MANE Select | NP_009185.2:p.Gly416Glu |