Linked Data
ClinVar Variation Id:
2679969
ClinVar RCV Id:
RCV003465032
dbSNP Id:
rs775100769
ExAC:
12:76741510 T / TC
gnomAD v2:
12-76741510-T-TC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.76347730_76347731insC , CM000674.2:g.76347730_76347731insC | GRCh38 |
| NC_000012.11:g.76741510_76741511insC , CM000674.1:g.76741510_76741511insC | GRCh37 |
| NC_000012.10:g.75265641_75265642insC | NCBI36 |
| NG_016357.1:g.5712_5713insG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650064.2:c.254_255insG MANE Select | ENSP00000497413.1:p.Phe86IlefsTer10 | |
| ENST00000393262.3:c.254_255insG | ENSP00000376946.3:p.Phe86IlefsTer10 | |
| NM_024685.3:c.254_255insG | NP_078961.3:p.Phe86IlefsTer10 | |
| NM_024685.4:c.254_255insG MANE Select | NP_078961.3:p.Phe86IlefsTer10 |