Linked Data
ClinVar Variation Id:
1231
dbSNP Id:
rs483352894
ExAC:
8:43047540 A / AG
gnomAD v2:
8-43047540-A-AG
gnomAD v4:
8-43192397-A-AG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.43192398dup , CM000670.2:g.43192398dup | GRCh38 |
| NC_000008.10:g.43047541dup , CM000670.1:g.43047541dup | GRCh37 |
| NC_000008.9:g.43166698dup | NCBI36 |
| NG_009552.1:g.56950dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000379644.9:c.1345dup MANE Select | ENSP00000368965.4:p.Asp449GlyfsTer21 | |
| ENST00000379644.8:c.1345dup | ENSP00000368965.4:p.Asp449GlyfsTer21 | |
| ENST00000520678.1:n.278dup | ||
| ENST00000521576.1:c.496dup | ENSP00000429029.1:p.Asp166GlyfsTer21 | |
| ENST00000524016.5:c.449dup | ||
| NM_152419.2:c.1345dup | NP_689632.2:p.Asp449GlyfsTer21 | |
| XM_005273409.1:c.1345dup | XP_005273466.1:p.Asp449GlyfsTer21 | |
| XM_005273410.1:c.1345dup | XP_005273467.1:p.Asp449GlyfsTer21 | |
| XM_005273411.1:c.1153dup | XP_005273468.1:p.Asp385GlyfsTer21 | |
| XM_005273412.2:c.1345dup | XP_005273469.1:p.Asp449GlyfsTer21 | |
| NM_001363227.1:c.1345dup | NP_001350156.1:p.Asp449GlyfsTer21 | |
| NM_001363228.1:c.1153dup | NP_001350157.1:p.Asp385GlyfsTer21 | |
| NM_001363229.1:c.481dup | NP_001350158.1:p.Asp161GlyfsTer21 | |
| XM_005273412.4:c.1345dup | XP_005273469.1:p.Asp449GlyfsTer21 | |
| NM_152419.3:c.1345dup MANE Select | NP_689632.2:p.Asp449GlyfsTer21 | |
| NM_001363227.2:c.1345dup | NP_001350156.1:p.Asp449GlyfsTer21 | |
| NM_001363228.2:c.1153dup | NP_001350157.1:p.Asp385GlyfsTer21 | |
| NM_001363229.2:c.481dup | NP_001350158.1:p.Asp161GlyfsTer21 |