Linked Data
ClinVar Variation Id:
542140
ClinVar RCV Id:
RCV000652521
dbSNP Id:
rs766520562
ExAC:
18:29598873 C / G
gnomAD v2:
18-29598873-C-G
gnomAD v3:
18-32018910-C-G
gnomAD v4:
18-32018910-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.32018910C>G , CM000680.2:g.32018910C>G | GRCh38 |
| NC_000018.9:g.29598873C>G , CM000680.1:g.29598873C>G | GRCh37 |
| NC_000018.8:g.27852871C>G | NCBI36 |
| NG_042056.1:g.5429C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000217740.4:c.47C>G MANE Select | ENSP00000217740.3:p.Ser16Cys | |
| ENST00000217740.3:c.47C>G | ENSP00000217740.3:p.Ser16Cys | |
| NM_017831.3:c.47C>G | NP_060301.2:p.Ser16Cys | |
| XM_011526045.1:c.47C>G | XP_011524347.1:p.Ser16Cys | |
| XM_011526046.1:c.47C>G | XP_011524348.1:p.Ser16Cys | |
| XM_011526047.1:c.47C>G | XP_011524349.1:p.Ser16Cys | |
| XM_011526045.3:c.47C>G | XP_011524347.1:p.Ser16Cys | |
| XM_011526046.3:c.47C>G | XP_011524348.1:p.Ser16Cys | |
| XM_011526047.3:c.47C>G | XP_011524349.1:p.Ser16Cys | |
| NM_017831.4:c.47C>G MANE Select | NP_060301.2:p.Ser16Cys |