Linked Data
ClinVar Variation Id:
2722124
ClinVar RCV Id:
RCV003506208
dbSNP Id:
rs776121022
ExAC:
22:32871037 G / A
gnomAD v2:
22-32871037-G-A
gnomAD v3:
22-32475050-G-A
gnomAD v4:
22-32475050-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.32475050G>A , CM000684.2:g.32475050G>A | GRCh38 |
| NC_000022.10:g.32871037G>A , CM000684.1:g.32871037G>A | GRCh37 |
| NC_000022.9:g.31201037G>A | NCBI36 |
| NG_016001.1:g.5331G>A | |
| NG_016001.2:g.5331G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266087.12:c.48G>A MANE Select | ENSP00000266087.7:p.Val16= | |
| ENST00000266087.11:c.48G>A | ENSP00000266087.7:p.Val16= | |
| ENST00000420700.5:c.48G>A | ENSP00000406155.1:p.Val16= | |
| ENST00000425028.5:c.48G>A | ENSP00000395823.1:p.Val16= | |
| ENST00000492535.1:n.36G>A | ||
| NM_012179.3:c.48G>A | NP_036311.3:p.Val16= | |
| XM_011530106.1:c.-126G>A | XP_011528408.1:n.-126G>A | |
| XM_024452207.1:c.-143G>A | XP_024307975.1:n.-143G>A | |
| NM_012179.4:c.48G>A MANE Select | NP_036311.3:p.Val16= |