Linked Data
ClinVar Variation Id:
767933
ClinVar RCV Id:
RCV000946764
dbSNP Id:
rs59932145
ExAC:
3:132179084 T / TC
gnomAD v2:
3-132179084-T-TC
gnomAD v3:
3-132460240-T-TC
gnomAD v4:
3-132460240-T-TC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.132460241dup , CM000665.2:g.132460241dup | GRCh38 |
| NC_000003.11:g.132179085dup , CM000665.1:g.132179085dup | GRCh37 |
| NC_000003.10:g.133661775dup | NCBI36 |
| NG_051045.1:g.47715dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260818.11:c.1450-9dup MANE Select | ENSP00000260818.6:n.1450-9dup | |
| ENST00000650455.1:c.1450-9dup | ENSP00000496825.1:n.1450-9dup | |
| ENST00000260818.10:c.1450-9dup | ENSP00000260818.6:n.1450-9dup | |
| ENST00000486798.5:n.1515-9dup | ||
| NM_015268.3:c.1450-9dup | NP_056083.3:n.1450-9dup | |
| XM_005247245.3:c.1450-9dup | XP_005247302.1:n.1450-9dup | |
| NM_001329126.1:c.1450-9dup | NP_001316055.1:n.1450-9dup | |
| NM_015268.4:c.1450-9dup MANE Select | NP_056083.3:n.1450-9dup | |
| NM_001329126.2:c.1450-9dup | NP_001316055.1:n.1450-9dup |