Linked Data
ClinVar Variation Id:
188821
ClinVar RCV Id:
RCV002485051
dbSNP Id:
rs786204491
gnomAD v2:
13-20763430-G-GT
gnomAD v3:
13-20189291-G-GT
gnomAD v4:
13-20189291-G-GT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.20189292dup , CM000675.2:g.20189292dup | GRCh38 |
| NC_000013.10:g.20763431dup , CM000675.1:g.20763431dup | GRCh37 |
| NC_000013.9:g.19661431dup | NCBI36 |
| NG_008358.1:g.8684dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000382844.2:c.290dup | ENSP00000372295.1:p.Tyr97Ter | |
| ENST00000382848.5:c.290dup MANE Select | ENSP00000372299.4:p.Tyr97Ter | |
| ENST00000382844.1:c.290dup | ENSP00000372295.1:p.Tyr97Ter | |
| ENST00000382848.4:c.290dup | ENSP00000372299.4:p.Tyr97Ter | |
| NM_004004.5:c.290dup | NP_003995.2:p.Tyr97Ter | |
| XM_011535049.1:c.290dup | XP_011533351.1:p.Tyr97Ter | |
| XM_011535049.2:c.290dup | XP_011533351.1:p.Tyr97Ter | |
| NM_004004.6:c.290dup MANE Select | NP_003995.2:p.Tyr97Ter |