Linked Data
ClinVar Variation Id:
8311
ClinVar RCV Id:
RCV000008809
dbSNP Id:
rs121909770
PubMed:
PMID:17637804
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.60648826A>T , CM000676.2:g.60648826A>T | GRCh38 |
| NC_000014.8:g.61115544A>T , CM000676.1:g.61115544A>T | GRCh37 |
| NC_000014.7:g.60185297A>T | NCBI36 |
| NG_008231.1:g.5612T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000645694.3:c.364T>A MANE Select | ENSP00000494686.1:p.Trp122Arg | |
| ENST00000247182.6:c.364T>A | ENSP00000247182.5:p.Trp122Arg | |
| ENST00000553535.2:n.249-2249T>A | ||
| ENST00000554986.2:c.42-2249T>A | ENSP00000452700.2:n.42-2249T>A | |
| ENST00000555955.3:n.1198-2249T>A | ||
| NM_005982.3:c.364T>A | NP_005973.1:p.Trp122Arg | |
| XM_017021602.2:c.364T>A | XP_016877091.1:p.Trp122Arg | |
| NM_005982.4:c.364T>A MANE Select | NP_005973.1:p.Trp122Arg |