Linked Data
ClinVar Variation Id:
370624
ClinVar RCV Id:
RCV000411241
dbSNP Id:
rs765561672
ExAC:
12:76740740 AT / A
gnomAD v2:
12-76740740-AT-A
gnomAD v4:
12-76346960-AT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.76346961del , CM000674.2:g.76346961del | GRCh38 |
| NC_000012.11:g.76740741del , CM000674.1:g.76740741del | GRCh37 |
| NC_000012.10:g.75264872del | NCBI36 |
| NG_016357.1:g.6482del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650064.2:c.1024del MANE Select | ENSP00000497413.1:p.Ile342SerfsTer27 | |
| ENST00000393262.3:c.1024del | ENSP00000376946.3:p.Ile342SerfsTer27 | |
| NM_024685.3:c.1024del | NP_078961.3:p.Ile342SerfsTer27 | |
| NM_024685.4:c.1024del MANE Select | NP_078961.3:p.Ile342SerfsTer27 |