Linked Data
dbSNP Id:
rs1680372646
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.84399653_84399656del , CM000663.2:g.84399653_84399656del | GRCh38 |
| NC_000001.10:g.84865336_84865339del , CM000663.1:g.84865336_84865339del | GRCh37 |
| NC_000001.9:g.84637924_84637927del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370665.4:c.125+964_125+967del MANE Select | ENSP00000359699.3:n.125+964_125+967del | |
| ENST00000370665.3:c.125+964_125+967del | ENSP00000359699.3:n.125+964_125+967del | |
| NM_021233.2:c.125+964_125+967del | NP_067056.2:n.125+964_125+967del | |
| NM_021233.3:c.125+964_125+967del MANE Select | NP_067056.2:n.125+964_125+967del |