Linked Data
ClinVar Variation Id:
2044367
ClinVar RCV Id:
RCV002900238
dbSNP Id:
rs750563670
ExAC:
5:45645721 T / TA
gnomAD v2:
5-45645721-T-TA
gnomAD v3:
5-45645619-T-TA
gnomAD v4:
5-45645619-T-TA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.45645626dup , CM000667.2:g.45645626dup | GRCh38 |
| NC_000005.9:g.45645728dup , CM000667.1:g.45645728dup | GRCh37 |
| NC_000005.8:g.45681485dup | NCBI36 |
| NG_042183.1:g.55499dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303230.6:c.426-12dup MANE Select | ENSP00000307342.4:n.426-12dup | |
| ENST00000673735.1:c.426-12dup | ENSP00000501107.1:n.426-12dup | |
| ENST00000303230.5:c.426-12dup | ENSP00000307342.4:n.426-12dup | |
| ENST00000634658.1:c.426-12dup | ENSP00000489134.1:n.426-12dup | |
| NM_021072.3:c.426-12dup | NP_066550.2:n.426-12dup | |
| NM_021072.4:c.426-12dup MANE Select | NP_066550.2:n.426-12dup |