Linked Data
dbSNP Id:
rs193302852
gnomAD v2:
16-1412534-A-AG
gnomAD v3:
16-1362533-A-AG
gnomAD v4:
16-1362533-A-AG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1362535dup , CM000678.2:g.1362535dup | GRCh38 |
| NC_000016.9:g.1412536dup , CM000678.1:g.1412536dup | GRCh37 |
| NC_000016.8:g.1352537dup | NCBI36 |
| NG_016985.1:g.15637dup | |
| NG_033129.1:g.57171dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000527168.6:n.708+1dup | ||
| ENST00000529110.2:c.693+1dup | ||
| ENST00000529957.6:n.667+1dup | ||
| ENST00000683366.1:c.*341+1dup | ||
| ENST00000683887.1:c.657+1dup | ||
| ENST00000684100.1:n.603+1dup | ||
| ENST00000684126.1:n.668dup | ||
| ENST00000684688.1:n.1234+1dup | ||
| ENST00000204679.9:c.609+1dup | ||
| ENST00000204679.8:c.609+1dup | ||
| ENST00000527076.1:n.1757dup | ||
| ENST00000527168.5:n.776+1dup | ||
| ENST00000529957.5:n.708+1dup | ||
| NM_032520.4:c.609+1dup | ||
| XM_017023782.1:c.657+1dup | ||
| XM_017023783.1:c.249+1dup | ||
| NM_032520.5:c.609+1dup |