Linked Data
ClinVar Variation Id:
466360
ClinVar RCV Id:
RCV000541297
dbSNP Id:
rs139487214
ExAC:
22:25603035 C / A
gnomAD v2:
22-25603035-C-A
gnomAD v3:
22-25207068-C-A
gnomAD v4:
22-25207068-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.25207068C>A , CM000684.2:g.25207068C>A | GRCh38 |
| NC_000022.10:g.25603035C>A , CM000684.1:g.25603035C>A | GRCh37 |
| NC_000022.9:g.23933035C>A | NCBI36 |
| NG_009828.1:g.12211C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000215855.7:c.492C>A MANE Select | ENSP00000215855.2:p.Pro164= | |
| ENST00000215855.6:c.492C>A | ENSP00000215855.2:p.Pro164= | |
| ENST00000404334.1:c.*7C>A | ENSP00000386123.1:n.*7C>A | |
| NM_004076.4:c.492C>A | NP_004067.1:p.Pro164= | |
| XM_011529902.1:c.660C>A | XP_011528204.1:p.Pro220= | |
| XM_011529902.3:c.660C>A | XP_011528204.1:p.Pro220= | |
| XM_017028599.2:c.*7C>A | XP_016884088.1:n.*7C>A | |
| NM_004076.5:c.492C>A MANE Select | NP_004067.1:p.Pro164= |