Linked Data
ClinVar Variation Id:
1307186
dbSNP Id:
rs1416588482
gnomAD v2:
15-73614897-A-AG
gnomAD v4:
15-73322556-A-AG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73322561dup , CM000677.2:g.73322561dup | GRCh38 |
| NC_000015.9:g.73614902dup , CM000677.1:g.73614902dup | GRCh37 |
| NC_000015.8:g.71401955dup | NCBI36 |
| NG_009063.1:g.51708dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261917.4:c.3536dup MANE Select | ENSP00000261917.3:p.Leu1180SerfsTer14 | |
| ENST00000261917.3:c.3536dup | ENSP00000261917.3:p.Leu1180SerfsTer14 | |
| NM_005477.2:c.3536dup | NP_005468.1:p.Leu1180SerfsTer14 | |
| XM_011521148.1:c.2318dup | XP_011519450.1:p.Leu774SerfsTer14 | |
| XM_011521148.2:c.2318dup | XP_011519450.1:p.Leu774SerfsTer14 | |
| NM_005477.3:c.3536dup MANE Select | NP_005468.1:p.Leu1180SerfsTer14 |