Linked Data
ClinVar Variation Id:
1194
ClinVar RCV Id:
RCV000001253
dbSNP Id:
rs768138495
ExAC:
20:948762 G / GC
gnomAD v2:
20-948762-G-GC
gnomAD v3:
20-968119-G-GC
gnomAD v4:
20-968119-G-GC
MyVariant Identifiers:
chr20:g.948763dupC (hg19)
chr20:g.948762_948763insC (hg19)
chr20:g.968120dupC (hg38)
chr20:g.968119_968120insC (hg38)
PubMed:
PMID:17186469
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.968125dup , CM000682.2:g.968125dup | GRCh38 |
| NC_000020.10:g.948768dup , CM000682.1:g.948768dup | GRCh37 |
| NC_000020.9:g.896768dup | NCBI36 |
| NG_013043.1:g.39145dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000217260.9:c.98dup MANE Select | ENSP00000217260.4:p.Asn34GlnfsTer? | |
| ENST00000217260.8:c.98dup | ENSP00000217260.4:p.Asn34GlnfsTer? | |
| ENST00000400634.2:c.98dup | ENSP00000383475.2:p.Asn34GlnfsTer? | |
| NM_001029871.3:c.98dup | NP_001025042.2:p.Asn34GlnfsTer? | |
| NM_001040007.2:c.98dup | NP_001035096.1:p.Asn34GlnfsTer? | |
| XM_011529232.1:c.146dup | XP_011527534.1:p.Asn50GlnfsTer? | |
| XM_011529233.1:c.146dup | XP_011527535.1:p.Asn50GlnfsTer? | |
| XR_937068.1:n.218dup | ||
| XR_937069.1:n.213dup | ||
| XM_017027839.1:c.98dup | XP_016883328.1:p.Asn34GlnfsTer? | |
| NM_001029871.4:c.98dup MANE Select | NP_001025042.2:p.Asn34GlnfsTer? | |
| NM_001040007.3:c.98dup | NP_001035096.1:p.Asn34GlnfsTer? |