Linked Data
dbSNP Id:
rs1473373156
gnomAD v2:
6-31236597-A-AC
gnomAD v3:
6-31268820-A-AC
gnomAD v4:
6-31268820-A-AC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31268821dup , CM000668.2:g.31268821dup | GRCh38 |
| NC_000006.11:g.31236598dup , CM000668.1:g.31236598dup | GRCh37 |
| NC_000006.10:g.31344577dup | NCBI36 |
| NG_029422.2:g.8311dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.*348dup MANE Select | ENSP00000365402.5:n.*348dup | |
| ENST00000376228.9:c.*348dup | ENSP00000365402.5:n.*348dup | |
| ENST00000376237.8:c.*1036dup | ENSP00000365412.4:n.*1036dup | |
| ENST00000383329.7:c.*348dup | ENSP00000372819.3:n.*348dup | |
| ENST00000466892.5:n.682dup | ||
| ENST00000470363.5:n.1207dup | ||
| ENST00000487245.5:n.1808dup | ||
| NM_002117.5:c.*348dup | NP_002108.4:n.*348dup | |
| NM_002117.6:c.*348dup MANE Select | NP_002108.4:n.*348dup |