Linked Data
dbSNP Id:
rs577485310
gnomAD v2:
7-147268210-C-CT
gnomAD v3:
7-147571118-C-CT
gnomAD v4:
7-147571118-C-CT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.147571126dup , CM000669.2:g.147571126dup | GRCh38 |
| NC_000007.13:g.147268218dup , CM000669.1:g.147268218dup | GRCh37 |
| NC_000007.12:g.146899151dup | NCBI36 |
| NG_007092.2:g.1459766dup | |
| NG_007092.3:g.1460126dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361727.8:c.1897+8869dup MANE Select | ENSP00000354778.3:n.1897+8869dup | |
| ENST00000636870.1:n.1759+8869dup | ||
| ENST00000637825.1:n.1380+8869dup | ||
| ENST00000638117.1:n.1800+8869dup | ||
| ENST00000361727.7:c.1897+8869dup | ENSP00000354778.3:n.1897+8869dup | |
| NM_014141.5:c.1897+8869dup | NP_054860.1:n.1897+8869dup | |
| XM_006715919.1:c.385+8869dup | XP_006715982.1:n.385+8869dup | |
| XM_017011950.2:c.1897+8869dup | XP_016867439.1:n.1897+8869dup | |
| NM_014141.6:c.1897+8869dup MANE Select | NP_054860.1:n.1897+8869dup |