Linked Data
ClinVar Variation Id:
1636776
ClinVar RCV Id:
RCV002128619
dbSNP Id:
rs752460731
gnomAD v2:
8-87751971-G-GA
gnomAD v4:
8-86739743-G-GA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86739749dup , CM000670.2:g.86739749dup | GRCh38 |
| NC_000008.10:g.87751977dup , CM000670.1:g.87751977dup | GRCh37 |
| NC_000008.9:g.87821093dup | NCBI36 |
| NG_016980.1:g.8932dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.130-8dup MANE Select | ENSP00000316605.5:n.130-8dup | |
| ENST00000681746.1:c.130-8dup | ENSP00000505959.1:n.130-8dup | |
| ENST00000320005.5:c.130-8dup | ENSP00000316605.5:n.130-8dup | |
| ENST00000519777.1:n.112-8dup | ||
| NM_019098.4:c.130-8dup | NP_061971.3:n.130-8dup | |
| NM_019098.5:c.130-8dup MANE Select | NP_061971.3:n.130-8dup |