Linked Data
ClinVar Variation Id:
2584827
ClinVar RCV Id:
RCV003340727
dbSNP Id:
rs778059370
ExAC:
18:58038946 CATAG / C
gnomAD v2:
18-58038946-CATAG-C
gnomAD v4:
18-60371713-CATAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.60371715_60371718del , CM000680.2:g.60371715_60371718del | GRCh38 |
| NC_000018.9:g.58038948_58038951del , CM000680.1:g.58038948_58038951del | GRCh37 |
| NC_000018.8:g.56189928_56189931del | NCBI36 |
| NG_016441.1:g.6052_6055del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299766.5:c.633_636del MANE Select | ENSP00000299766.3:p.Tyr212SerfsTer5 | |
| ENST00000299766.4:c.633_636del | ENSP00000299766.3:p.Tyr212SerfsTer5 | |
| NM_005912.2:c.633_636del | NP_005903.2:p.Tyr212SerfsTer5 | |
| NM_005912.3:c.633_636del MANE Select | NP_005903.2:p.Tyr212SerfsTer5 |