Linked Data
dbSNP Id:
rs1858622070
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22625095dup , CM000673.2:g.22625095dup | GRCh38 |
| NC_000011.9:g.22646641dup , CM000673.1:g.22646641dup | GRCh37 |
| NC_000011.8:g.22603217dup | NCBI36 |
| NG_007425.1:g.5747dup , LRG_527:g.5747dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327470.6:c.716dup MANE Select | ENSP00000330875.3:p.His239GlnfsTer27 | |
| ENST00000327470.4:c.716dup | ENSP00000330875.3:p.His239GlnfsTer27 | |
| NM_022725.3:c.716dup , LRG_527t1:c.716dup | NP_073562.1:p.His239GlnfsTer27 | |
| NM_022725.4:c.716dup MANE Select | NP_073562.1:p.His239GlnfsTer27 |