Linked Data
ClinVar Variation Id:
39269
ClinVar RCV Id:
RCV000032546
dbSNP Id:
rs199476192
PubMed:
PMID:22497028
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186199041dup , CM000666.2:g.186199041dup | GRCh38 |
| NC_000004.11:g.187120195dup , CM000666.1:g.187120195dup | GRCh37 |
| NC_000004.10:g.187357189dup | NCBI36 |
| NG_007965.1:g.12522dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378802.5:c.759dup MANE Select | ENSP00000368079.4:p.His254ThrfsTer18 | |
| ENST00000378802.4:c.759dup | ENSP00000368079.4:p.His254ThrfsTer18 | |
| ENST00000507209.5:n.1600dup | ||
| NM_207352.3:c.759dup | NP_997235.3:p.His254ThrfsTer18 | |
| XM_005262935.2:c.759dup | XP_005262992.1:p.His254ThrfsTer18 | |
| XM_006714184.2:c.363dup | XP_006714247.1:p.His122ThrfsTer18 | |
| XM_005262935.4:c.759dup | XP_005262992.1:p.His254ThrfsTer18 | |
| XM_017008037.1:c.363dup | XP_016863526.1:p.His122ThrfsTer18 | |
| NM_207352.4:c.759dup MANE Select | NP_997235.3:p.His254ThrfsTer18 |