Linked Data
dbSNP Id:
rs1178028769
gnomAD v2:
20-6077650-C-CA
gnomAD v3:
20-6097003-C-CA
gnomAD v4:
20-6097003-C-CA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.6097004dup , CM000682.2:g.6097004dup | GRCh38 |
| NC_000020.10:g.6077651dup , CM000682.1:g.6077651dup | GRCh37 |
| NC_000020.9:g.6025651dup | NCBI36 |
| NG_016213.1:g.31541dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699095.1:c.987dup | ENSP00000514127.1:p.Glu330Ter | |
| ENST00000699096.1:n.1449dup | ||
| ENST00000699097.1:n.157dup | ||
| ENST00000217289.9:c.987dup MANE Select | ENSP00000217289.4:p.Glu330Ter | |
| ENST00000217289.8:c.987dup | ENSP00000217289.4:p.Glu330Ter | |
| ENST00000536936.1:c.216dup | ENSP00000441063.1:p.Glu73Ter | |
| NM_017671.4:c.987dup | NP_060141.3:p.Glu330Ter | |
| XM_024451935.1:c.987dup | XP_024307703.1:p.Glu330Ter | |
| NM_017671.5:c.987dup MANE Select | NP_060141.3:p.Glu330Ter |