Linked Data
ClinVar Variation Id:
1179439
ClinVar RCV Id:
RCV001536423
dbSNP Id:
rs11383441
ExAC:
14:74726515 G / GC
gnomAD v2:
14-74726515-G-GC
gnomAD v3:
14-74259812-G-GC
gnomAD v4:
14-74259812-G-GC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.74259815dup , CM000676.2:g.74259815dup | GRCh38 |
| NC_000014.8:g.74726518dup , CM000676.1:g.74726518dup | GRCh37 |
| NC_000014.7:g.73796271dup | NCBI36 |
| NG_013092.1:g.25344dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261980.3:c.760+33dup MANE Select | ENSP00000261980.2:n.760+33dup | |
| ENST00000261980.2:c.760+33dup | ENSP00000261980.2:n.760+33dup | |
| NM_182894.2:c.760+33dup | NP_878314.1:n.760+33dup | |
| XM_011536719.1:c.760+33dup | XP_011535021.1:n.760+33dup | |
| NM_182894.3:c.760+33dup MANE Select | NP_878314.1:n.760+33dup |