Linked Data
ClinVar Variation Id:
1355851
ClinVar RCV Id:
RCV001867134
dbSNP Id:
rs747625805
ExAC:
10:30602842 G / A
gnomAD v2:
10-30602842-G-A
gnomAD v4:
10-30313913-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.30313913G>A , CM000672.2:g.30313913G>A | GRCh38 |
| NC_000010.10:g.30602842G>A , CM000672.1:g.30602842G>A | GRCh37 |
| NC_000010.9:g.30642848G>A | NCBI36 |
| NG_028096.1:g.40426C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263063.9:c.1445C>T MANE Select | ENSP00000263063.3:p.Thr482Ile | |
| ENST00000263063.8:c.1445C>T | ENSP00000263063.3:p.Thr482Ile | |
| ENST00000488290.5:n.3200C>T | ||
| NM_018109.3:c.1445C>T | NP_060579.3:p.Thr482Ile | |
| NM_018109.4:c.1445C>T MANE Select | NP_060579.3:p.Thr482Ile |