Linked Data
ClinVar Variation Id:
217331
ClinVar RCV Id:
RCV000203335
dbSNP Id:
rs864309684
PubMed:
PMID:26694549
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.147908044dup , CM000663.2:g.147908044dup | GRCh38 |
| NC_000001.10:g.147380171dup , CM000663.1:g.147380171dup | GRCh37 |
| NC_000001.9:g.145846795dup | NCBI36 |
| NG_016242.1:g.10226dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369235.2:c.89dup MANE Select | ENSP00000358238.1:p.Ile31HisfsTer18 | |
| ENST00000369235.1:c.89dup | ENSP00000358238.1:p.Ile31HisfsTer18 | |
| NM_005267.4:c.89dup | NP_005258.2:p.Ile31HisfsTer18 | |
| XM_011509416.1:c.89dup | XP_011507718.1:p.Ile31HisfsTer18 | |
| XM_011509417.1:c.89dup | XP_011507719.1:p.Ile31HisfsTer18 | |
| XM_011509417.2:c.89dup | XP_011507719.1:p.Ile31HisfsTer18 | |
| XR_002956281.1:n.1004dup | ||
| NM_005267.5:c.89dup MANE Select | NP_005258.2:p.Ile31HisfsTer18 |