Linked Data
ClinVar Variation Id:
208028
ClinVar RCV Id:
RCV000192307
dbSNP Id:
rs797044822
gnomAD v4:
19-7529175-C-CT
PubMed:
PMID:20301393
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7529176dup , CM000681.2:g.7529176dup | GRCh38 |
| NC_000019.9:g.7594062dup , CM000681.1:g.7594062dup | GRCh37 |
| NC_000019.8:g.7500062dup | NCBI36 |
| NG_013374.1:g.25dup | |
| NG_015806.1:g.11567dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.1210dup MANE Select | ENSP00000264079.5:p.Tyr404LeufsTer? | |
| ENST00000264079.10:c.1210dup | ENSP00000264079.5:p.Tyr404LeufsTer? | |
| ENST00000394321.9:n.1525dup | ||
| ENST00000594692.1:n.206dup | ||
| ENST00000595860.5:n.393dup | ||
| ENST00000599334.1:c.87dup | ||
| NM_020533.2:c.1210dup | NP_065394.1:p.Tyr404LeufsTer? | |
| NM_020533.3:c.1210dup MANE Select | NP_065394.1:p.Tyr404LeufsTer? |