Linked Data
ClinVar Variation Id:
1506184
ClinVar RCV Id:
RCV002004430
dbSNP Id:
rs774385439
ExAC:
12:5153348 G / A
gnomAD v2:
12-5153348-G-A
gnomAD v4:
12-5044182-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.5044182G>A , CM000674.2:g.5044182G>A | GRCh38 |
| NC_000012.11:g.5153348G>A , CM000674.1:g.5153348G>A | GRCh37 |
| NC_000012.10:g.5023609G>A | NCBI36 |
| NG_012198.1:g.5264G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252321.5:c.35G>A MANE Select | ENSP00000252321.3:p.Gly12Asp | |
| ENST00000252321.4:c.35G>A | ENSP00000252321.3:p.Gly12Asp | |
| NM_002234.3:c.35G>A | NP_002225.2:p.Gly12Asp | |
| NM_002234.4:c.35G>A MANE Select | NP_002225.2:p.Gly12Asp |