Linked Data
ClinVar Variation Id:
998610
ClinVar RCV Id:
RCV001294493
dbSNP Id:
rs1909899600
gnomAD v4:
18-51058356-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.51058356G>C , CM000680.2:g.51058356G>C | GRCh38 |
| NC_000018.9:g.48584726G>C , CM000680.1:g.48584726G>C | GRCh37 |
| NC_000018.8:g.46838724G>C | NCBI36 |
| NG_013013.2:g.95317G>C , LRG_318:g.95317G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000588860.6:c.804G>C | ENSP00000465878.2:p.Trp268Cys | |
| ENST00000589076.6:c.804G>C | ENSP00000466934.2:p.Trp268Cys | |
| ENST00000589941.2:c.804G>C | ENSP00000465874.2:p.Trp268Cys | |
| ENST00000590061.2:c.804G>C | ENSP00000464772.2:p.Trp268Cys | |
| ENST00000593223.2:c.804G>C | ENSP00000466118.2:p.Trp268Cys | |
| ENST00000611848.2:c.804G>C | ENSP00000478613.2:p.Trp268Cys | |
| ENST00000684953.1:n.2176G>C | ||
| ENST00000685232.1:n.912G>C | ||
| ENST00000688307.1:n.156-1510G>C | ||
| ENST00000688574.1:n.912G>C | ||
| ENST00000688903.1:n.1018G>C | ||
| ENST00000690892.1:n.912G>C | ||
| ENST00000342988.8:c.804G>C MANE Select | ENSP00000341551.3:p.Trp268Cys | |
| ENST00000342988.7:c.804G>C | ENSP00000341551.3:p.Trp268Cys | |
| ENST00000398417.6:c.804G>C | ENSP00000381452.1:p.Trp268Cys | |
| ENST00000588745.5:c.667+3363G>C | ENSP00000464901.1:n.667+3363G>C | |
| ENST00000591126.5:n.2805G>C | ||
| ENST00000592186.5:c.804G>C | ENSP00000468611.1:p.Trp268Cys | |
| ENST00000611848.1:c.4G>C | ||
| NM_005359.5:c.804G>C , LRG_318t1:c.804G>C | NP_005350.1:p.Trp268Cys | |
| NM_005359.6:c.804G>C MANE Select | NP_005350.1:p.Trp268Cys |