Linked Data
ClinVar Variation Id:
4400
ClinVar RCV Id:
RCV000004650
dbSNP Id:
rs193929390
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66025841dup , CM000673.2:g.66025841dup | GRCh38 |
| NC_000011.9:g.65793312dup , CM000673.1:g.65793312dup | GRCh37 |
| NC_000011.8:g.65549888dup | NCBI36 |
| NG_016285.1:g.5677dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000312106.6:c.539dup MANE Select | ENSP00000309052.5:p.His182ProfsTer8 | |
| ENST00000312106.5:c.539dup | ENSP00000309052.5:p.His182ProfsTer8 | |
| NM_053054.3:c.539dup | NP_444282.3:p.His182ProfsTer8 | |
| XR_949785.1:n.679dup | ||
| XR_949786.1:n.679dup | ||
| XR_949787.1:n.679dup | ||
| XR_002957121.1:n.677dup | ||
| XR_002957122.1:n.678dup | ||
| XR_949785.2:n.677dup | ||
| XR_949787.2:n.678dup | ||
| NM_053054.4:c.539dup MANE Select | NP_444282.3:p.His182ProfsTer8 |