Linked Data
ClinVar Variation Id:
2640904
ClinVar RCV Id:
RCV003394545
dbSNP Id:
rs1232818167
gnomAD v2:
10-124221252-C-A
gnomAD v4:
10-122461736-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122461736C>A , CM000672.2:g.122461736C>A | GRCh38 |
| NC_000010.10:g.124221252C>A , CM000672.1:g.124221252C>A | GRCh37 |
| NC_000010.9:g.124211242C>A | NCBI36 |
| NG_011554.1:g.5212C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368984.8:c.84C>A MANE Select | ENSP00000357980.3:p.Gly28= | |
| ENST00000648167.1:c.154+3027C>A | ENSP00000498033.1:n.154+3027C>A | |
| ENST00000368984.7:c.84C>A | ENSP00000357980.3:p.Gly28= | |
| NM_002775.4:c.84C>A | NP_002766.1:p.Gly28= | |
| NM_002775.5:c.84C>A MANE Select | NP_002766.1:p.Gly28= |