Linked Data
ClinVar Variation Id:
370368
ClinVar RCV Id:
RCV000412206
dbSNP Id:
rs773864735
ExAC:
12:76740231 TC / T
gnomAD v2:
12-76740231-TC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.76346452del , CM000674.2:g.76346452del | GRCh38 |
| NC_000012.11:g.76740232del , CM000674.1:g.76740232del | GRCh37 |
| NC_000012.10:g.75264363del | NCBI36 |
| NG_016357.1:g.6991del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650064.2:c.1533del MANE Select | ENSP00000497413.1:p.Thr512HisfsTer12 | |
| ENST00000393262.3:c.1533del | ENSP00000376946.3:p.Thr512HisfsTer12 | |
| NM_024685.3:c.1533del | NP_078961.3:p.Thr512HisfsTer12 | |
| NM_024685.4:c.1533del MANE Select | NP_078961.3:p.Thr512HisfsTer12 |