Linked Data
ClinVar Variation Id:
524066
ClinVar RCV Id:
RCV000627562
dbSNP Id:
rs1554768236
MyVariant Identifiers:
chr9:g.133352098dup (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133352098dup , CM000671.2:g.133352098dup | GRCh38 |
| NC_000009.10:g.135208774dup | NCBI36 |
| NG_008477.1:g.9409dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371974.8:c.796dup MANE Select | ENSP00000361042.3:p.Thr266AsnfsTer26 | |
| ENST00000371974.7:c.796dup | ENSP00000361042.3:p.Thr266AsnfsTer26 | |
| ENST00000437995.1:n.706dup | ||
| ENST00000495952.5:n.786dup | ||
| ENST00000615505.4:c.469dup | ENSP00000482067.1:p.Thr157AsnfsTer26 | |
| NM_001280787.1:c.469dup | NP_001267716.1:p.Thr157AsnfsTer26 | |
| NM_003172.3:c.796dup | NP_003163.1:p.Thr266AsnfsTer26 | |
| XM_011518942.1:c.469dup | XP_011517244.1:p.Thr157AsnfsTer26 | |
| NM_003172.4:c.796dup MANE Select | NP_003163.1:p.Thr266AsnfsTer26 |