Linked Data
ClinVar Variation Id:
198581
dbSNP Id:
rs397756552
ExAC:
13:40254100 A / AT
gnomAD v2:
13-40254100-A-AT
gnomAD v3:
13-39679963-A-AT
gnomAD v4:
13-39679963-A-AT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.39679972dup , CM000675.2:g.39679972dup | GRCh38 |
| NC_000013.10:g.40254109dup , CM000675.1:g.40254109dup | GRCh37 |
| NC_000013.9:g.39152109dup | NCBI36 |
| NG_028352.1:g.29346dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000455146.8:c.624-3dup MANE Select | ENSP00000397441.2:n.624-3dup | |
| ENST00000356576.8:c.*461-3dup | ENSP00000348983.4:n.*461-3dup | |
| ENST00000416691.5:c.624-3dup | ENSP00000403733.1:n.624-3dup | |
| ENST00000455146.7:c.624-3dup | ENSP00000397441.2:n.624-3dup | |
| ENST00000465775.1:n.377dup | ||
| ENST00000536488.5:c.356-3dup | ||
| ENST00000537156.1:n.275-3dup | ||
| NM_001145079.1:c.624-3dup | NP_001138551.1:n.624-3dup | |
| NM_020751.2:c.624-3dup | NP_065802.1:n.624-3dup | |
| NR_026745.1:n.789-3dup | ||
| XM_011535168.1:c.624-3dup | XP_011533470.1:n.624-3dup | |
| XM_011535169.1:c.468-3dup | XP_011533471.1:n.468-3dup | |
| XM_011535170.1:c.468-3dup | XP_011533472.1:n.468-3dup | |
| NM_020751.3:c.624-3dup MANE Select | NP_065802.1:n.624-3dup | |
| NM_001145079.2:c.624-3dup | NP_001138551.1:n.624-3dup |