Linked Data
ClinVar Variation Id:
1951602
ClinVar RCV Id:
RCV002686284
dbSNP Id:
rs768517828
ExAC:
14:91804332 A / AC
gnomAD v2:
14-91804332-A-AC
gnomAD v3:
14-91337988-A-AC
gnomAD v4:
14-91337988-A-AC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.91337989dup , CM000676.2:g.91337989dup | GRCh38 |
| NC_000014.8:g.91804333dup , CM000676.1:g.91804333dup | GRCh37 |
| NC_000014.7:g.90874086dup | NCBI36 |
| NG_033118.1:g.84856dup | |
| NG_033118.2:g.84856dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389857.11:c.1050+16dup MANE Select | ENSP00000374507.6:n.1050+16dup | |
| ENST00000389857.10:c.1050+16dup | ENSP00000374507.6:n.1050+16dup | |
| NM_001080414.3:c.1050+16dup | NP_001073883.2:n.1050+16dup | |
| XM_005267691.3:c.1050+16dup | XP_005267748.1:n.1050+16dup | |
| XM_011536796.1:c.942+16dup | XP_011535098.1:n.942+16dup | |
| XR_429316.2:n.1178+16dup | ||
| XR_943459.1:n.1178+16dup | ||
| XM_005267691.5:c.1050+16dup | XP_005267748.1:n.1050+16dup | |
| XM_011536796.2:c.942+16dup | XP_011535098.1:n.942+16dup | |
| XM_017021335.2:c.1050+16dup | XP_016876824.1:n.1050+16dup | |
| XM_017021337.2:c.1050+16dup | XP_016876826.1:n.1050+16dup | |
| XR_429316.4:n.1176+16dup | ||
| NM_001080414.4:c.1050+16dup MANE Select | NP_001073883.2:n.1050+16dup |