Linked Data
ClinVar Variation Id:
15867
ClinVar RCV Id:
RCV000017213
dbSNP Id:
rs34586189
PubMed:
PMID:8537232
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.177071G>A , CM000678.2:g.177071G>A | GRCh38 |
| NC_000016.9:g.227070G>A , CM000678.1:g.227070G>A | GRCh37 |
| NC_000016.8:g.167070G>A | NCBI36 |
| NG_000006.1:g.37934G>A | |
| NG_059186.1:g.5421G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000320868.9:c.238G>A MANE Select | ENSP00000322421.5:p.Ala80Thr | |
| ENST00000397797.1:c.142G>A | ENSP00000380899.1:p.Ala48Thr | |
| ENST00000472694.1:n.374G>A | ||
| ENST00000487791.1:n.207G>A | ||
| NM_000558.4:c.238G>A | NP_000549.1:p.Ala80Thr | |
| NM_000558.5:c.238G>A MANE Select | NP_000549.1:p.Ala80Thr |