Linked Data
ClinVar Variation Id:
161823
ClinVar RCV Id:
RCV000149359
dbSNP Id:
rs193920957
gnomAD v4:
10-123666478-C-T
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.123666478C>T , CM000672.2:g.123666478C>T | GRCh38 |
| NC_000010.10:g.125425994C>T , CM000672.1:g.125425994C>T | GRCh37 |
| NC_000010.9:g.125415984C>T | NCBI36 |
| NG_051571.1:g.5124C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284674.2:c.71C>T MANE Select | ENSP00000284674.1:p.Ala24Val | |
| ENST00000284674.1:c.71C>T | ENSP00000284674.1:p.Ala24Val | |
| NM_153442.3:c.71C>T | NP_703143.1:p.Ala24Val | |
| NM_153442.4:c.71C>T MANE Select | NP_703143.1:p.Ala24Val |