Linked Data
dbSNP Id:
rs1482702579
gnomAD v2:
3-190122315-C-CA
gnomAD v3:
3-190404526-C-CA
gnomAD v4:
3-190404526-C-CA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.190404528dup , CM000665.2:g.190404528dup | GRCh38 |
| NC_000003.11:g.190122317dup , CM000665.1:g.190122317dup | GRCh37 |
| NC_000003.10:g.191605011dup | NCBI36 |
| NG_008149.1:g.21477dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264734.3:c.218-234dup MANE Select | ENSP00000264734.3:n.218-234dup | |
| ENST00000456423.2:c.115-5375dup | ENSP00000414136.2:n.115-5375dup | |
| ENST00000264734.2:c.428-234dup | ENSP00000264734.2:n.428-234dup | |
| ENST00000456423.1:c.325-5375dup | ENSP00000414136.1:n.325-5375dup | |
| ENST00000468220.1:n.410-234dup | ||
| NM_006580.3:c.428-234dup | NP_006571.1:n.428-234dup | |
| NM_001378492.1:c.218-234dup | NP_001365421.1:n.218-234dup | |
| NM_001378493.1:c.218-234dup | NP_001365422.1:n.218-234dup | |
| NM_006580.4:c.218-234dup MANE Select | NP_006571.2:n.218-234dup |