Linked Data
ClinVar Variation Id:
669354
ClinVar RCV Id:
RCV000828404
dbSNP Id:
rs58028318
gnomAD v2:
17-62022659-A-AG
gnomAD v3:
17-63945299-A-AG
gnomAD v4:
17-63945299-A-AG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63945301dup , CM000679.2:g.63945301dup | GRCh38 |
| NC_000017.10:g.62022661dup , CM000679.1:g.62022661dup | GRCh37 |
| NC_000017.9:g.59376393dup | NCBI36 |
| NG_011699.1:g.32619dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435607.3:c.3720+60dup MANE Select | ENSP00000396320.1:n.3720+60dup | |
| ENST00000578147.5:c.3720+60dup | ENSP00000463963.1:n.3720+60dup | |
| NM_000334.4:c.3720+60dup MANE Select | NP_000325.4:n.3720+60dup | |
| XM_005257566.3:c.3720+60dup | XP_005257623.1:n.3720+60dup |