Linked Data
ClinVar Variation Id:
41244
ClinVar RCV Id:
RCV000034144
dbSNP Id:
rs267608672
gnomAD v4:
10-78002232-T-A
PubMed:
PMID:22855961
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.78002232T>A , CM000672.2:g.78002232T>A | GRCh38 |
| NC_000010.10:g.79761990T>A , CM000672.1:g.79761990T>A | GRCh37 |
| NC_000010.9:g.79431996T>A | NCBI36 |
| NG_029648.1:g.32309A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000698727.1:n.1384A>T | ||
| ENST00000698728.1:n.1903A>T | ||
| ENST00000698729.1:n.3449A>T | ||
| ENST00000698730.1:n.3449A>T | ||
| ENST00000698731.1:c.2183A>T | ENSP00000513898.1:p.Asn728Ile | |
| ENST00000698732.1:c.*1185A>T | ENSP00000513899.1:n.*1185A>T | |
| ENST00000698733.1:c.*1511A>T | ENSP00000513900.1:n.*1511A>T | |
| ENST00000698734.1:c.2324A>T | ENSP00000513901.1:p.Asn775Ile | |
| ENST00000698735.1:n.2439A>T | ||
| ENST00000698736.1:n.2439A>T | ||
| ENST00000698737.1:n.2439A>T | ||
| ENST00000698738.1:n.2439A>T | ||
| ENST00000698739.1:n.2439A>T | ||
| ENST00000372371.8:c.2324A>T MANE Select | ENSP00000361446.3:p.Asn775Ile | |
| ENST00000372371.7:c.2324A>T | ENSP00000361446.3:p.Asn775Ile | |
| ENST00000472014.5:n.469+2484A>T | ||
| ENST00000473588.2:c.987A>T | ||
| NM_007055.3:c.2324A>T | NP_008986.2:p.Asn775Ile | |
| NM_007055.4:c.2324A>T MANE Select | NP_008986.2:p.Asn775Ile |