Linked Data
dbSNP Id:
rs759842258
ExAC:
1:179533920 A / AT
gnomAD v2:
1-179533920-A-AT
gnomAD v4:
1-179564785-A-AT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.179564788dup , CM000663.2:g.179564788dup | GRCh38 |
| NC_000001.10:g.179533923dup , CM000663.1:g.179533923dup | GRCh37 |
| NC_000001.9:g.177800546dup | NCBI36 |
| NG_007535.1:g.16164dup , LRG_887:g.16164dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367615.9:c.282dup MANE Select | ENSP00000356587.4:p.Ser95IlefsTer8 | |
| ENST00000367615.8:c.282dup | ENSP00000356587.4:p.Ser95IlefsTer8 | |
| ENST00000367616.4:c.282dup | ENSP00000356588.4:p.Ser95IlefsTer8 | |
| NM_001297575.1:c.282dup | NP_001284504.1:p.Ser95IlefsTer8 | |
| NM_014625.3:c.282dup , LRG_887t1:c.282dup | NP_055440.1:p.Ser95IlefsTer8 | |
| XM_005245483.2:c.275-5025dup | XP_005245540.1:n.275-5025dup | |
| XM_006711529.2:c.282dup | XP_006711592.1:p.Ser95IlefsTer8 | |
| XM_005245483.3:c.275-5025dup | XP_005245540.1:n.275-5025dup | |
| XM_017002298.1:c.282dup | XP_016857787.1:p.Ser95IlefsTer8 | |
| XM_017002299.1:c.282dup | XP_016857788.1:p.Ser95IlefsTer8 | |
| NM_001297575.2:c.282dup | NP_001284504.1:p.Ser95IlefsTer8 | |
| NM_014625.4:c.282dup MANE Select | NP_055440.1:p.Ser95IlefsTer8 |