Linked Data
ClinVar Variation Id:
204116
ClinVar RCV Id:
RCV000186322
dbSNP Id:
rs536352238
PubMed:
PMID:24934730
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240873987T>A , CM000664.2:g.240873987T>A | GRCh38 |
| NC_000002.11:g.241813404T>A , CM000664.1:g.241813404T>A | GRCh37 |
| NC_000002.10:g.241462077T>A | NCBI36 |
| NG_008005.1:g.10243T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.605T>A MANE Select | ENSP00000302620.3:p.Ile202Asn | |
| ENST00000307503.3:c.605T>A | ENSP00000302620.3:p.Ile202Asn | |
| ENST00000476698.1:n.332+938T>A | ||
| NM_000030.2:c.605T>A | NP_000021.1:p.Ile202Asn | |
| NM_000030.3:c.605T>A MANE Select | NP_000021.1:p.Ile202Asn |