Linked Data
ClinVar Variation Id:
1908078
ClinVar RCV Id:
RCV002581285
dbSNP Id:
rs891791920
gnomAD v4:
10-133373237-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.133373237C>T , CM000672.2:g.133373237C>T | GRCh38 |
| NC_000010.10:g.135186741C>T , CM000672.1:g.135186741C>T | GRCh37 |
| NC_000010.9:g.135036731C>T | NCBI36 |
| NG_042077.1:g.5168G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368547.4:c.88+9G>A MANE Select | ENSP00000357535.3:n.88+9G>A | |
| ENST00000368547.3:c.88+9G>A | ENSP00000357535.3:n.88+9G>A | |
| NM_004092.3:c.88+9G>A | NP_004083.3:n.88+9G>A | |
| XR_002956965.1:n.151+9G>A | ||
| NM_004092.4:c.88+9G>A MANE Select | NP_004083.3:n.88+9G>A |