Linked Data
ClinVar Variation Id:
13488
ClinVar RCV Id:
RCV000014432
dbSNP Id:
rs267607195
PubMed:
PMID:9600245
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.4911908T>A , CM000674.2:g.4911908T>A | GRCh38 |
| NC_000012.11:g.5021074T>A , CM000674.1:g.5021074T>A | GRCh37 |
| NC_000012.10:g.4891335T>A | NCBI36 |
| NG_011815.1:g.7002T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382545.5:c.530T>A MANE Select | ENSP00000371985.3:p.Ile177Asn | |
| ENST00000543874.3:n.105+1436T>A | ||
| ENST00000639306.1:c.368T>A | ENSP00000492506.1:p.Ile123Asn | |
| ENST00000382545.3:c.530T>A | ENSP00000371985.3:p.Ile177Asn | |
| ENST00000541095.1:n.105+1436T>A | ||
| ENST00000543874.2:n.96+1436T>A | ||
| NM_000217.2:c.530T>A | NP_000208.2:p.Ile177Asn | |
| NM_000217.3:c.530T>A MANE Select | NP_000208.2:p.Ile177Asn |