Linked Data
dbSNP Id:
rs1057516266
gnomAD v2:
12-76741193-GAAAT-G
gnomAD v3:
12-76347413-GAAAT-G
gnomAD v4:
12-76347413-GAAAT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.76347418_76347421del , CM000674.2:g.76347418_76347421del | GRCh38 |
| NC_000012.11:g.76741198_76741201del , CM000674.1:g.76741198_76741201del | GRCh37 |
| NC_000012.10:g.75265329_75265332del | NCBI36 |
| NG_016357.1:g.6026_6029del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650064.2:c.568_571del MANE Select | ENSP00000497413.1:p.Ile190HisfsTer3 | |
| ENST00000393262.3:c.568_571del | ENSP00000376946.3:p.Ile190HisfsTer3 | |
| NM_024685.3:c.568_571del | NP_078961.3:p.Ile190HisfsTer3 | |
| NM_024685.4:c.568_571del MANE Select | NP_078961.3:p.Ile190HisfsTer3 |