Linked Data
ClinVar Variation Id:
15518
ClinVar RCV Id:
RCV000016782
dbSNP Id:
rs33983205
PubMed:
PMID:1487420
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5227014T>A , CM000673.2:g.5227014T>A | GRCh38 |
| NC_000011.9:g.5248244T>A , CM000673.1:g.5248244T>A | GRCh37 |
| NC_000011.8:g.5204820T>A | NCBI36 |
| NG_000007.3:g.70602A>T | |
| NG_059281.1:g.5058A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.8A>T | ENSP00000494175.1:p.His3Leu | |
| ENST00000335295.4:c.8A>T MANE Select | ENSP00000333994.3:p.His3Leu | |
| ENST00000380315.2:c.8A>T | ENSP00000369671.2:p.His3Leu | |
| ENST00000485743.1:n.59A>T | ||
| ENST00000633227.1:c.8A>T | ENSP00000488004.1:p.His3Leu | |
| NM_000518.4:c.8A>T | NP_000509.1:p.His3Leu | |
| NM_000518.5:c.8A>T MANE Select | NP_000509.1:p.His3Leu |