Linked Data
ClinVar Variation Id:
1414636
ClinVar RCV Id:
RCV001930574
dbSNP Id:
rs373620750
ExAC:
1:151372564 A / G
gnomAD v2:
1-151372564-A-G
gnomAD v3:
1-151400088-A-G
gnomAD v4:
1-151400088-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.151400088A>G , CM000663.2:g.151400088A>G | GRCh38 |
| NC_000001.10:g.151372564A>G , CM000663.1:g.151372564A>G | GRCh37 |
| NC_000001.9:g.149639188A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290541.7:c.248A>G MANE Select | ENSP00000290541.6:p.Asn83Ser | |
| ENST00000290541.6:c.248A>G | ENSP00000290541.6:p.Asn83Ser | |
| ENST00000476467.1:n.249A>G | ||
| ENST00000493673.1:n.246A>G | ||
| ENST00000495288.5:n.276A>G | ||
| ENST00000495805.5:n.257A>G | ||
| NM_002796.2:c.248A>G | NP_002787.2:p.Asn83Ser | |
| NM_002796.3:c.248A>G MANE Select | NP_002787.2:p.Asn83Ser |