Linked Data
dbSNP Id:
rs1037433439
gnomAD v2:
7-147189801-C-CT
gnomAD v3:
7-147492709-C-CT
gnomAD v4:
7-147492709-C-CT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.147492710dup , CM000669.2:g.147492710dup | GRCh38 |
| NC_000007.13:g.147189802dup , CM000669.1:g.147189802dup | GRCh37 |
| NC_000007.12:g.146820735dup | NCBI36 |
| NG_007092.2:g.1381350dup | |
| NG_007092.3:g.1381710dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361727.8:c.1777+6669dup MANE Select | ENSP00000354778.3:n.1777+6669dup | |
| ENST00000636870.1:n.1639+6669dup | ||
| ENST00000637694.1:n.1681-3911dup | ||
| ENST00000637825.1:n.1260+6669dup | ||
| ENST00000638117.1:n.1680+6669dup | ||
| ENST00000361727.7:c.1777+6669dup | ENSP00000354778.3:n.1777+6669dup | |
| NM_014141.5:c.1777+6669dup | NP_054860.1:n.1777+6669dup | |
| XM_006715919.1:c.265+6669dup | XP_006715982.1:n.265+6669dup | |
| XM_017011950.2:c.1777+6669dup | XP_016867439.1:n.1777+6669dup | |
| NM_014141.6:c.1777+6669dup MANE Select | NP_054860.1:n.1777+6669dup |