Linked Data
dbSNP Id:
rs761120613
ExAC:
11:47603996 C / CT
gnomAD v2:
11-47603996-C-CT
gnomAD v4:
11-47582444-C-CT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47582447dup , CM000673.2:g.47582447dup | GRCh38 |
| NC_000011.9:g.47603999dup , CM000673.1:g.47603999dup | GRCh37 |
| NC_000011.8:g.47560575dup | NCBI36 |
| NG_011946.1:g.8438dup | |
| NG_011946.2:g.8438dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263774.9:c.606dup MANE Select | ENSP00000263774.4:p.Pro203SerfsTer7 | |
| ENST00000531351.2:n.1801dup | ||
| ENST00000677462.1:n.3080dup | ||
| ENST00000678975.1:n.2863dup | ||
| ENST00000263774.8:c.606dup | ENSP00000263774.4:p.Pro203SerfsTer7 | |
| ENST00000524568.1:n.709dup | ||
| ENST00000525212.1:n.261dup | ||
| ENST00000525378.5:n.544dup | ||
| ENST00000527178.1:n.206dup | ||
| ENST00000533507.5:n.1500dup | ||
| NM_004551.2:c.606dup | NP_004542.1:p.Pro203SerfsTer7 | |
| NM_004551.3:c.606dup MANE Select | NP_004542.1:p.Pro203SerfsTer7 |