Linked Data
ClinVar Variation Id:
436743
ClinVar RCV Id:
RCV000504437
dbSNP Id:
rs782004176
ExAC:
22:19163979 G / A
gnomAD v2:
22-19163979-G-A
gnomAD v3:
22-19176466-G-A
gnomAD v4:
22-19176466-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19176466G>A , CM000684.2:g.19176466G>A | GRCh38 |
| NC_000022.10:g.19163979G>A , CM000684.1:g.19163979G>A | GRCh37 |
| NC_000022.9:g.17543979G>A | NCBI36 |
| NG_033863.1:g.7398C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000215882.10:c.776C>T MANE Select | ENSP00000215882.5:p.Thr259Met | |
| ENST00000215882.9:c.776C>T | ENSP00000215882.5:p.Thr259Met | |
| ENST00000451283.5:c.467C>T | ENSP00000401480.1:p.Thr156Met | |
| ENST00000470922.5:n.918C>T | ||
| NM_001256534.1:c.797C>T | NP_001243463.1:p.Thr266Met | |
| NM_001287387.1:c.467C>T | NP_001274316.1:p.Thr156Met | |
| NM_005984.4:c.776C>T | NP_005975.1:p.Thr259Met | |
| NR_046298.2:n.827C>T | ||
| NM_005984.5:c.776C>T MANE Select | NP_005975.1:p.Thr259Met | |
| NM_001256534.2:c.797C>T | NP_001243463.1:p.Thr266Met | |
| NM_001287387.2:c.467C>T | NP_001274316.1:p.Thr156Met | |
| NR_046298.3:n.700C>T |