Linked Data
ClinVar Variation Id:
2509386
ClinVar RCV Id:
RCV004284045
dbSNP Id:
rs373014884
ExAC:
11:67352208 C / A
gnomAD v2:
11-67352208-C-A
gnomAD v3:
11-67584737-C-A
gnomAD v4:
11-67584737-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67584737C>A , CM000673.2:g.67584737C>A | GRCh38 |
| NC_000011.9:g.67352208C>A , CM000673.1:g.67352208C>A | GRCh37 |
| NC_000011.8:g.67108784C>A | NCBI36 |
| NG_012075.1:g.6143C>A , LRG_723:g.6143C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398603.6:c.197C>A | ENSP00000381604.1:p.Ser66Tyr | |
| ENST00000398606.10:c.197C>A MANE Select | ENSP00000381607.3:p.Ser66Tyr | |
| ENST00000646888.1:c.90C>A | ENSP00000494477.1:p.Val30= | |
| ENST00000398603.5:c.197C>A | ENSP00000381604.1:p.Ser66Tyr | |
| ENST00000398606.7:c.197C>A | ENSP00000381607.3:p.Ser66Tyr | |
| ENST00000489040.1:n.196C>A | ||
| ENST00000494593.1:n.627C>A | ||
| ENST00000498765.5:c.160C>A | ||
| NM_000852.3:c.197C>A , LRG_723t1:c.197C>A | NP_000843.1:p.Ser66Tyr | |
| NM_000852.4:c.197C>A MANE Select | NP_000843.1:p.Ser66Tyr |