Linked Data
ClinVar Variation Id:
423236
dbSNP Id:
rs1064796315
gnomAD v2:
12-76739734-AC-A
gnomAD v3:
12-76345954-AC-A
gnomAD v4:
12-76345954-AC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.76345956del , CM000674.2:g.76345956del | GRCh38 |
| NC_000012.11:g.76739736del , CM000674.1:g.76739736del | GRCh37 |
| NC_000012.10:g.75263867del | NCBI36 |
| NG_016357.1:g.7488del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650064.2:c.2030del MANE Select | ENSP00000497413.1:p.Gly677ValfsTer5 | |
| ENST00000393262.3:c.2030del | ENSP00000376946.3:p.Gly677ValfsTer5 | |
| NM_024685.3:c.2030del | NP_078961.3:p.Gly677ValfsTer5 | |
| NM_024685.4:c.2030del MANE Select | NP_078961.3:p.Gly677ValfsTer5 |