Linked Data
ClinVar Variation Id:
30211
ClinVar RCV Id:
RCV000023133
dbSNP Id:
rs387906817
PubMed:
PMID:22158542
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.22181504A>G , CM000680.2:g.22181504A>G | GRCh38 |
| NC_000018.9:g.19761465A>G , CM000680.1:g.19761465A>G | GRCh37 |
| NC_000018.8:g.18015463A>G | NCBI36 |
| NG_032677.1:g.17062A>G | |
| NG_032677.2:g.17068A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000269216.10:c.1354A>G MANE Select | ENSP00000269216.3:p.Thr452Ala | |
| ENST00000269216.7:c.1354A>G | ENSP00000269216.3:p.Thr452Ala | |
| ENST00000581694.1:c.1354A>G | ENSP00000462313.1:p.Thr452Ala | |
| NM_005257.5:c.1354A>G | NP_005248.2:p.Thr452Ala | |
| NM_005257.6:c.1354A>G MANE Select | NP_005248.2:p.Thr452Ala |