Linked Data
dbSNP Id:
rs796097780
gnomAD v2:
6-35791635-A-AT
gnomAD v3:
6-35823858-A-AT
gnomAD v4:
6-35823858-A-AT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35823869dup , CM000668.2:g.35823869dup | GRCh38 |
| NC_000006.11:g.35791646dup , CM000668.1:g.35791646dup | GRCh37 |
| NC_000006.10:g.35899624dup | NCBI36 |
| NG_012184.1:g.23576dup | |
| NG_012184.2:g.23576dup | |
| NG_012184.3:g.31664dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360215.3:c.*904dup MANE Select | ENSP00000353346.1:n.*904dup | |
| ENST00000496656.2:n.578+4049dup | ||
| ENST00000651132.1:c.*904dup | ENSP00000498322.1:n.*904dup | |
| ENST00000651676.1:c.*16+4406dup | ENSP00000498699.1:n.*16+4406dup | |
| ENST00000652718.1:c.508+4406dup | ENSP00000498866.1:n.508+4406dup | |
| ENST00000360215.2:c.*904dup | ENSP00000353346.1:n.*904dup | |
| ENST00000496656.1:n.812+4049dup | ||
| NM_182548.3:c.*904dup | NP_872354.1:n.*904dup | |
| NM_182548.4:c.*904dup MANE Select | NP_872354.1:n.*904dup |