Linked Data
ClinVar Variation Id:
1508228
ClinVar RCV Id:
RCV002013833
dbSNP Id:
rs1468132563
gnomAD v2:
10-135186825-G-A
gnomAD v4:
10-133373321-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.133373321G>A , CM000672.2:g.133373321G>A | GRCh38 |
| NC_000010.10:g.135186825G>A , CM000672.1:g.135186825G>A | GRCh37 |
| NC_000010.9:g.135036815G>A | NCBI36 |
| NG_042077.1:g.5084C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368547.4:c.13C>T MANE Select | ENSP00000357535.3:p.Arg5Cys | |
| ENST00000368547.3:c.13C>T | ENSP00000357535.3:p.Arg5Cys | |
| NM_004092.3:c.13C>T | NP_004083.3:p.Arg5Cys | |
| XR_002956965.1:n.76C>T | ||
| NM_004092.4:c.13C>T MANE Select | NP_004083.3:p.Arg5Cys |