Linked Data
ClinVar Variation Id:
39642
ClinVar RCV Id:
RCV000032842
dbSNP Id:
rs606231241
gnomAD v4:
10-87713265-T-TG
PubMed:
PMID:22791835
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87713266dup , CM000672.2:g.87713266dup | GRCh38 |
| NC_000010.10:g.89473023dup , CM000672.1:g.89473023dup | GRCh37 |
| NC_000010.9:g.89463003dup | NCBI36 |
| NG_012150.1:g.58548dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000456849.2:c.337dup MANE Select | ENSP00000406157.1:p.Ala113GlyfsTer18 | |
| ENST00000361175.8:c.337dup | ENSP00000354436.4:p.Ala113GlyfsTer18 | |
| ENST00000456849.1:c.337dup | ENSP00000406157.1:p.Ala113GlyfsTer18 | |
| ENST00000482258.1:n.380dup | ||
| NM_001015880.1:c.337dup | NP_001015880.1:p.Ala113GlyfsTer18 | |
| NM_004670.3:c.337dup | NP_004661.2:p.Ala113GlyfsTer18 | |
| NM_001015880.2:c.337dup MANE Select | NP_001015880.1:p.Ala113GlyfsTer18 | |
| NM_004670.4:c.337dup | NP_004661.2:p.Ala113GlyfsTer18 |