Linked Data
dbSNP Id:
rs2113912194
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31271389dup , CM000668.2:g.31271389dup | GRCh38 |
| NC_000006.11:g.31239166dup , CM000668.1:g.31239166dup | GRCh37 |
| NC_000006.10:g.31347145dup | NCBI36 |
| NG_029422.2:g.5743dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.344-41dup MANE Select | ENSP00000365402.5:n.344-41dup | |
| ENST00000376228.9:c.344-41dup | ENSP00000365402.5:n.344-41dup | |
| ENST00000376237.8:c.344-58dup | ENSP00000365412.4:n.344-58dup | |
| ENST00000383329.7:c.344-41dup | ENSP00000372819.3:n.344-41dup | |
| ENST00000415537.1:c.342-41dup | ||
| ENST00000484378.1:n.572dup | ||
| ENST00000487245.5:n.662dup | ||
| ENST00000495835.1:n.533-41dup | ||
| NM_002117.5:c.344-41dup | NP_002108.4:n.344-41dup | |
| NM_002117.6:c.344-41dup MANE Select | NP_002108.4:n.344-41dup |