Linked Data
ClinVar Variation Id:
2088157
ClinVar RCV Id:
RCV003018032
dbSNP Id:
rs748894736
ExAC:
12:76740089 TAAG / T
gnomAD v2:
12-76740089-TAAG-T
gnomAD v4:
12-76346309-TAAG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.76346312_76346314del , CM000674.2:g.76346312_76346314del | GRCh38 |
| NC_000012.11:g.76740092_76740094del , CM000674.1:g.76740092_76740094del | GRCh37 |
| NC_000012.10:g.75264223_75264225del | NCBI36 |
| NG_016357.1:g.7131_7133del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650064.2:c.1673_1675del MANE Select | ENSP00000497413.1:p.Ser558del | |
| ENST00000393262.3:c.1673_1675del | ENSP00000376946.3:p.Ser558del | |
| NM_024685.3:c.1673_1675del | NP_078961.3:p.Ser558del | |
| NM_024685.4:c.1673_1675del MANE Select | NP_078961.3:p.Ser558del |