Linked Data
ClinVar Variation Id:
3005344
ClinVar RCV Id:
RCV003868471
dbSNP Id:
rs767800575
ExAC:
1:94522384 A / AC
gnomAD v3:
1-94056828-A-AC
gnomAD v4:
1-94056828-A-AC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94056830dup , CM000663.2:g.94056830dup | GRCh38 |
| NC_000001.10:g.94522386dup , CM000663.1:g.94522386dup | GRCh37 |
| NC_000001.9:g.94294974dup | NCBI36 |
| NG_009073.1:g.69321dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.2161-7dup MANE Select | ENSP00000359245.3:n.2161-7dup | |
| ENST00000649773.1:c.2161-1514dup | ENSP00000496882.1:n.2161-1514dup | |
| ENST00000370225.3:c.2161-7dup | ENSP00000359245.3:n.2161-7dup | |
| ENST00000536513.5:c.-65+6345dup | ENSP00000439707.2:n.-65+6345dup | |
| NM_000350.2:c.2161-7dup | NP_000341.2:n.2161-7dup | |
| NM_000350.3:c.2161-7dup MANE Select | NP_000341.2:n.2161-7dup |