Linked Data
ClinVar Variation Id:
264518
dbSNP Id:
rs886039182
gnomAD v4:
10-119676844-G-GA
PubMed:
PMID:25008357
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.119676846dup , CM000672.2:g.119676846dup | GRCh38 |
| NC_000010.10:g.121436358dup , CM000672.1:g.121436358dup | GRCh37 |
| NC_000010.9:g.121426348dup | NCBI36 |
| NG_016125.1:g.30477dup , LRG_742:g.30477dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369085.8:c.1292dup MANE Select | ENSP00000358081.4:p.Val432GlyfsTer12 | |
| ENST00000369085.7:c.1292dup | ENSP00000358081.3:p.Val432GlyfsTer12 | |
| NM_004281.3:c.1292dup , LRG_742t1:c.1292dup | NP_004272.2:p.Val432GlyfsTer12 | |
| XM_005270287.1:c.1289dup | XP_005270344.1:p.Val431GlyfsTer12 | |
| XM_005270287.2:c.1289dup | XP_005270344.1:p.Val431GlyfsTer12 | |
| NM_004281.4:c.1292dup MANE Select | NP_004272.2:p.Val432GlyfsTer12 |