Linked Data
ClinVar Variation Id:
661199
ClinVar RCV Id:
RCV000818564
dbSNP Id:
rs1366915768
gnomAD v4:
10-80275146-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.80275146C>A , CM000672.2:g.80275146C>A | GRCh38 |
| NC_000010.10:g.82034902C>A , CM000672.1:g.82034902C>A | GRCh37 |
| NC_000010.9:g.82024882C>A | NCBI36 |
| NG_008083.1:g.19533G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372213.8:c.822G>T MANE Select | ENSP00000361287.3:p.Trp274Cys | |
| ENST00000372213.7:c.822G>T | ENSP00000361287.3:p.Trp274Cys | |
| ENST00000480845.1:n.54G>T | ||
| ENST00000485270.5:n.334G>T | ||
| NM_000429.2:c.822G>T | NP_000420.1:p.Trp274Cys | |
| XM_005269842.3:c.822G>T | XP_005269899.1:p.Trp274Cys | |
| XM_005269843.3:c.699G>T | XP_005269900.1:p.Trp233Cys | |
| NM_000429.3:c.822G>T MANE Select | NP_000420.1:p.Trp274Cys |