Linked Data
ClinVar Variation Id:
42196
dbSNP Id:
rs368647424
ExAC:
22:19165292 C / T
gnomAD v2:
22-19165292-C-T
gnomAD v3:
22-19177779-C-T
gnomAD v4:
22-19177779-C-T
PubMed:
PMID:23393310
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19177779C>T , CM000684.2:g.19177779C>T | GRCh38 |
| NC_000022.10:g.19165292C>T , CM000684.1:g.19165292C>T | GRCh37 |
| NC_000022.9:g.17545292C>T | NCBI36 |
| NG_033805.1:g.118938G>A | |
| NG_033863.1:g.6085G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000215882.10:c.389G>A MANE Select | ENSP00000215882.5:p.Gly130Asp | |
| ENST00000215882.9:c.389G>A | ENSP00000215882.5:p.Gly130Asp | |
| ENST00000451283.5:c.80G>A | ENSP00000401480.1:p.Gly27Asp | |
| ENST00000461267.1:n.535G>A | ||
| ENST00000470922.5:n.531G>A | ||
| NM_001256534.1:c.410G>A | NP_001243463.1:p.Gly137Asp | |
| NM_001287387.1:c.80G>A | NP_001274316.1:p.Gly27Asp | |
| NM_005984.4:c.389G>A | NP_005975.1:p.Gly130Asp | |
| NR_046298.2:n.492+163G>A | ||
| NM_005984.5:c.389G>A MANE Select | NP_005975.1:p.Gly130Asp | |
| NM_001256534.2:c.410G>A | NP_001243463.1:p.Gly137Asp | |
| NM_001287387.2:c.80G>A | NP_001274316.1:p.Gly27Asp | |
| NR_046298.3:n.365+163G>A |