Linked Data
ClinVar Variation Id:
2898918
ClinVar RCV Id:
RCV003620160
dbSNP Id:
rs1281310527
gnomAD v2:
6-1610855-G-A
gnomAD v4:
6-1610620-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.1610620G>A , CM000668.2:g.1610620G>A | GRCh38 |
| NC_000006.11:g.1610855G>A , CM000668.1:g.1610855G>A | GRCh37 |
| NC_000006.10:g.1555854G>A | NCBI36 |
| NG_009368.1:g.5175G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645831.2:c.175G>A MANE Select | ENSP00000493906.1:p.Gly59Ser | |
| ENST00000380874.3:c.175G>A | ENSP00000370256.2:p.Gly59Ser | |
| NM_001453.2:c.175G>A | NP_001444.2:p.Gly59Ser | |
| NM_001453.3:c.175G>A MANE Select | NP_001444.2:p.Gly59Ser |