Linked Data
ClinVar Variation Id:
10220
ClinVar RCV Id:
RCV000010933
dbSNP Id:
rs387906445
PubMed:
PMID:1639429
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154957114dup , CM000685.2:g.154957114dup | GRCh38 |
| NC_000023.10:g.154185389dup , CM000685.1:g.154185389dup | GRCh37 |
| NC_000023.9:g.153838583dup | NCBI36 |
| NG_011403.1:g.70611dup | |
| NG_011403.2:g.70611dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.1596dup MANE Select | ENSP00000353393.4:p.Thr533AspfsTer10 | |
| ENST00000647125.1:c.*1472dup | ENSP00000496062.1:n.*1472dup | |
| ENST00000360256.8:c.1596dup | ENSP00000353393.4:p.Thr533AspfsTer10 | |
| NM_000132.3:c.1596dup | NP_000123.1:p.Thr533AspfsTer10 | |
| XM_011531126.1:c.1491dup | XP_011529428.1:p.Thr498AspfsTer10 | |
| NM_000132.4:c.1596dup MANE Select | NP_000123.1:p.Thr533AspfsTer10 |