Linked Data
dbSNP Id:
rs754974988
ExAC:
19:50333043 C / CG
gnomAD v2:
19-50333043-C-CG
gnomAD v4:
19-49829786-C-CG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49829791dup , CM000681.2:g.49829791dup | GRCh38 |
| NC_000019.9:g.50333048dup , CM000681.1:g.50333048dup | GRCh37 |
| NC_000019.8:g.55024860dup | NCBI36 |
| NG_017091.1:g.16513dup , LRG_368:g.16513dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000593767.3:c.531dup | ENSP00000470692.3:p.Ile178AspfsTer19 | |
| ENST00000312865.10:c.531dup MANE Select | ENSP00000326767.5:p.Ile178AspfsTer19 | |
| ENST00000538643.5:c.181-720dup | ENSP00000437496.1:n.181-720dup | |
| ENST00000595185.5:c.531dup | ENSP00000470027.1:p.Ile178AspfsTer19 | |
| ENST00000612791.4:c.531dup | ENSP00000479851.1:p.Ile178AspfsTer19 | |
| ENST00000612854.4:c.450+776dup | ENSP00000482155.1:n.450+776dup | |
| ENST00000617849.4:c.158-948dup | ENSP00000484882.1:n.158-948dup | |
| ENST00000618715.4:c.158-947dup | ENSP00000480731.1:n.158-947dup | |
| ENST00000620467.4:c.531dup | ENSP00000482659.1:p.Ile178AspfsTer19 | |
| ENST00000622402.4:c.146-6036dup | ENSP00000478074.1:n.146-6036dup | |
| NM_030973.3:c.531dup , LRG_368t1:c.531dup | NP_112235.2:p.Ile178AspfsTer19 | |
| XM_011527353.1:c.531dup | XP_011525655.1:p.Ile178AspfsTer19 | |
| NM_001378355.1:c.531dup | NP_001365284.1:p.Ile178AspfsTer19 | |
| NM_030973.4:c.531dup MANE Select | NP_112235.2:p.Ile178AspfsTer19 |