Linked Data
dbSNP Id:
rs2042842958
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48409400dup , CM000677.2:g.48409400dup | GRCh38 |
| NC_000015.9:g.48701597dup , CM000677.1:g.48701597dup | GRCh37 |
| NC_000015.8:g.46488889dup | NCBI36 |
| NG_008805.2:g.241390dup , LRG_778:g.241390dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682170.1:n.4388dup | ||
| ENST00000682767.1:n.3504dup | ||
| ENST00000316623.10:c.*1591dup MANE Select | ENSP00000325527.5:n.*1591dup | |
| ENST00000316623.9:c.*1591dup | ENSP00000325527.5:n.*1591dup | |
| NM_000138.4:c.*1591dup , LRG_778t1:c.*1591dup | NP_000129.3:n.*1591dup | |
| NM_000138.5:c.*1591dup MANE Select | NP_000129.3:n.*1591dup |