Linked Data
dbSNP Id:
rs772129177
ExAC:
12:52845467 AG / A
gnomAD v2:
12-52845467-AG-A
gnomAD v3:
12-52451683-AG-A
gnomAD v4:
12-52451683-AG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52451689del , CM000674.2:g.52451689del | GRCh38 |
| NC_000012.11:g.52845473del , CM000674.1:g.52845473del | GRCh37 |
| NC_000012.10:g.51131740del | NCBI36 |
| NG_008299.1:g.5443del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252252.4:c.395del MANE Select | ENSP00000252252.3:p.Pro132LeufsTer14 | |
| ENST00000252252.3:c.395del | ENSP00000252252.3:p.Pro132LeufsTer14 | |
| NM_005555.3:c.395del | NP_005546.2:p.Pro132LeufsTer14 | |
| NM_005555.4:c.395del MANE Select | NP_005546.2:p.Pro132LeufsTer14 |