Linked Data
ClinVar Variation Id:
2828619
ClinVar RCV Id:
RCV003744288
dbSNP Id:
rs758840181
ExAC:
5:148407255 A / AT
gnomAD v2:
5-148407255-A-AT
gnomAD v4:
5-149027692-A-AT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149027693dup , CM000667.2:g.149027693dup | GRCh38 |
| NC_000005.9:g.148407256dup , CM000667.1:g.148407256dup | GRCh37 |
| NC_000005.8:g.148387449dup | NCBI36 |
| NG_007947.2:g.40482dup , LRG_269:g.40482dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502274.2:c.1935dup | ||
| ENST00000515425.6:c.2039dup MANE Select | ENSP00000423660.1:p.Tyr680Ter | |
| ENST00000675793.1:c.*1323dup | ENSP00000502039.1:n.*1323dup | |
| ENST00000676056.1:c.*1549dup | ENSP00000501827.1:n.*1549dup | |
| ENST00000323829.9:c.*1427dup | ENSP00000313025.5:n.*1427dup | |
| ENST00000504517.5:c.1569dup | ENSP00000421779.1:n.1569dup | |
| ENST00000504690.5:c.2039dup | ENSP00000425627.1:p.Tyr680Ter | |
| ENST00000510779.1:c.1089dup | ||
| ENST00000511307.5:c.*1819dup | ENSP00000421420.1:n.*1819dup | |
| ENST00000512049.5:c.2018dup | ENSP00000421860.1:p.Tyr673Ter | |
| ENST00000513604.5:c.*1427dup | ENSP00000423111.1:n.*1427dup | |
| ENST00000515425.5:c.2039dup | ENSP00000423660.1:p.Tyr680Ter | |
| NM_024577.3:c.2039dup , LRG_269t1:c.2039dup | NP_078853.2:p.Tyr680Ter | |
| NM_024577.4:c.2039dup MANE Select | NP_078853.2:p.Tyr680Ter |