Linked Data
ClinVar Variation Id:
3425
ClinVar RCV Id:
RCV000003594
dbSNP Id:
rs104894186
gnomAD v4:
10-23193805-C-T
COSMIC:
COSM917084
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.23193805C>T , CM000672.2:g.23193805C>T | GRCh38 |
| NC_000010.10:g.23482734C>T , CM000672.1:g.23482734C>T | GRCh37 |
| NC_000010.9:g.23522740C>T | NCBI36 |
| NG_009798.1:g.6275C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376504.4:c.886C>T MANE Select | ENSP00000365687.3:p.Arg296Ter | |
| ENST00000638469.1:c.216C>T | ENSP00000491649.1:n.216C>T | |
| ENST00000639082.1:c.98C>T | ||
| ENST00000639873.1:c.194C>T | ENSP00000491542.1:n.194C>T | |
| ENST00000640579.1:c.127C>T | ||
| ENST00000640697.1:c.117C>T | ||
| ENST00000376504.3:c.886C>T | ENSP00000365687.3:p.Arg296Ter | |
| NM_178161.2:c.886C>T | NP_835455.1:p.Arg296Ter | |
| NM_178161.3:c.886C>T MANE Select | NP_835455.1:p.Arg296Ter |