Linked Data
ClinVar Variation Id:
15607
ClinVar RCV Id:
RCV000016874
dbSNP Id:
rs33950993
PubMed:
PMID:14649314
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226600G>T , CM000673.2:g.5226600G>T | GRCh38 |
| NC_000011.9:g.5247830G>T , CM000673.1:g.5247830G>T | GRCh37 |
| NC_000011.8:g.5204406G>T | NCBI36 |
| NG_000007.3:g.71016C>A | |
| NG_059281.1:g.5472C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.292C>A | ENSP00000494175.1:p.His98Asn | |
| ENST00000335295.4:c.292C>A MANE Select | ENSP00000333994.3:p.His98Asn | |
| ENST00000475226.1:n.224C>A | ||
| ENST00000485743.1:n.343C>A | ||
| ENST00000633227.1:c.*108C>A | ENSP00000488004.1:n.*108C>A | |
| NM_000518.4:c.292C>A | NP_000509.1:p.His98Asn | |
| NM_000518.5:c.292C>A MANE Select | NP_000509.1:p.His98Asn |