Linked Data
ClinVar Variation Id:
218930
dbSNP Id:
rs864309720
gnomAD v4:
18-35101976-C-T
PubMed:
PMID:26637975
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.35101976C>T , CM000680.2:g.35101976C>T | GRCh38 |
| NC_000018.9:g.32681940C>T , CM000680.1:g.32681940C>T | GRCh37 |
| NC_000018.8:g.30935938C>T | NCBI36 |
| NG_047123.1:g.130049C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000300249.10:c.427C>T MANE Select | ENSP00000300249.4:p.Arg143Cys | |
| ENST00000300249.9:c.427C>T | ENSP00000300249.4:p.Arg143Cys | |
| ENST00000413393.5:c.298C>T | ENSP00000396074.1:p.Arg100Cys | |
| ENST00000436190.6:c.391C>T | ENSP00000407723.1:p.Arg131Cys | |
| ENST00000538170.6:c.268C>T | ENSP00000446343.1:p.Arg90Cys | |
| ENST00000588349.6:c.298C>T | ENSP00000468904.1:p.Arg100Cys | |
| ENST00000588910.5:c.427C>T | ENSP00000468588.1:p.Arg143Cys | |
| ENST00000589180.5:c.145C>T | ENSP00000465939.1:p.Arg49Cys | |
| ENST00000589699.1:c.298C>T | ENSP00000464921.1:p.Arg100Cys | |
| ENST00000591734.5:c.298C>T | ENSP00000468216.1:p.Arg100Cys | |
| NM_001143826.2:c.298C>T | NP_001137298.1:p.Arg100Cys | |
| NM_001143827.2:c.391C>T | NP_001137299.1:p.Arg131Cys | |
| NM_001256420.1:c.268C>T | NP_001243349.1:p.Arg90Cys | |
| NM_014268.3:c.427C>T | NP_055083.1:p.Arg143Cys | |
| NR_046177.1:n.422C>T | ||
| XM_006722375.2:c.439C>T | XP_006722438.1:p.Arg147Cys | |
| XM_011525795.1:c.298C>T | XP_011524097.1:p.Arg100Cys | |
| NM_001143827.3:c.391C>T | NP_001137299.1:p.Arg131Cys | |
| NM_001256420.2:c.268C>T | NP_001243349.1:p.Arg90Cys | |
| NM_014268.4:c.427C>T MANE Select | NP_055083.1:p.Arg143Cys | |
| NR_046177.2:n.659C>T | ||
| NM_001143826.3:c.298C>T | NP_001137298.1:p.Arg100Cys |