Linked Data
ClinVar Variation Id:
183421
ClinVar RCV Id:
RCV000162242
dbSNP Id:
rs373764886
ExAC:
18:29625679 C / T
gnomAD v2:
18-29625679-C-T
gnomAD v3:
18-32045716-C-T
gnomAD v4:
18-32045716-C-T
COSMIC:
COSM3525301
PubMed:
PMID:25196541
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.32045716C>T , CM000680.2:g.32045716C>T | GRCh38 |
| NC_000018.9:g.29625679C>T , CM000680.1:g.29625679C>T | GRCh37 |
| NC_000018.8:g.27879677C>T | NCBI36 |
| NG_042056.1:g.32235C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000217740.4:c.488C>T MANE Select | ENSP00000217740.3:p.Ser163Leu | |
| ENST00000217740.3:c.488C>T | ENSP00000217740.3:p.Ser163Leu | |
| ENST00000580209.1:c.160C>T | ||
| ENST00000580863.1:n.270C>T | ||
| ENST00000583384.5:n.331C>T | ||
| ENST00000583814.5:n.443C>T | ||
| NM_017831.3:c.488C>T | NP_060301.2:p.Ser163Leu | |
| XM_011526045.1:c.488C>T | XP_011524347.1:p.Ser163Leu | |
| XM_011526046.1:c.488C>T | XP_011524348.1:p.Ser163Leu | |
| XM_011526047.1:c.488C>T | XP_011524349.1:p.Ser163Leu | |
| XM_011526045.3:c.488C>T | XP_011524347.1:p.Ser163Leu | |
| XM_011526046.3:c.488C>T | XP_011524348.1:p.Ser163Leu | |
| XM_011526047.3:c.488C>T | XP_011524349.1:p.Ser163Leu | |
| NM_017831.4:c.488C>T MANE Select | NP_060301.2:p.Ser163Leu |