Linked Data
dbSNP Id:
rs35320452
gnomAD v2:
5-127863232-C-CT
gnomAD v3:
5-128527539-C-CT
gnomAD v4:
5-128527539-C-CT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128527548dup , CM000667.2:g.128527548dup | GRCh38 |
| NC_000005.9:g.127863241dup , CM000667.1:g.127863241dup | GRCh37 |
| NC_000005.8:g.127891140dup | NCBI36 |
| NG_008750.1:g.15503dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000508053.6:c.532+332dup | ENSP00000424571.2:n.532+332dup | |
| ENST00000703787.1:n.239+332dup | ||
| ENST00000262464.9:c.532+332dup MANE Select | ENSP00000262464.4:n.532+332dup | |
| ENST00000262464.8:c.532+332dup | ENSP00000262464.4:n.532+332dup | |
| ENST00000502468.5:c.532+332dup | ENSP00000424753.1:n.532+332dup | |
| ENST00000508053.5:c.532+332dup | ENSP00000424571.1:n.532+332dup | |
| ENST00000508989.5:c.433+332dup | ENSP00000425596.1:n.433+332dup | |
| ENST00000514742.1:n.1152+332dup | ||
| ENST00000619499.4:c.532+332dup | ENSP00000482132.1:n.532+332dup | |
| ENST00000620257.1:c.532+332dup | ENSP00000479157.1:n.532+332dup | |
| NM_001999.3:c.532+332dup | NP_001990.2:n.532+332dup | |
| XM_017009228.2:c.532+332dup | XP_016864717.1:n.532+332dup | |
| NM_001999.4:c.532+332dup MANE Select | NP_001990.2:n.532+332dup |