Linked Data
ClinVar Variation Id:
2803745
ClinVar RCV Id:
RCV003681666
dbSNP Id:
rs1232316032
gnomAD v4:
10-30313912-A-T
MyVariant Identifiers:
chr10:g.30602841A>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.30313912A>T , CM000672.2:g.30313912A>T | GRCh38 |
| NC_000010.10:g.30602841A>T , CM000672.1:g.30602841A>T | GRCh37 |
| NC_000010.9:g.30642847A>T | NCBI36 |
| NG_028096.1:g.40427T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263063.9:c.1446T>A MANE Select | ENSP00000263063.3:p.Thr482= | |
| ENST00000263063.8:c.1446T>A | ENSP00000263063.3:p.Thr482= | |
| ENST00000488290.5:n.3201T>A | ||
| NM_018109.3:c.1446T>A | NP_060579.3:p.Thr482= | |
| NM_018109.4:c.1446T>A MANE Select | NP_060579.3:p.Thr482= |