Linked Data
dbSNP Id:
rs782696922
ExAC:
10:48389432 AG / A
gnomAD v2:
10-48389432-AG-A
gnomAD v4:
10-47349926-AC-A
MyVariant Identifiers:
chr10:g.48389433del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.47349929del , CM000672.2:g.47349929del | GRCh38 |
| NC_000010.10:g.48389435del , CM000672.1:g.48389435del | GRCh37 |
| NC_000010.9:g.48009441del | NCBI36 |
| NG_029718.1:g.6559del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000584701.2:c.1445del MANE Select | ENSP00000463151.1:p.Pro482LeufsTer? | |
| ENST00000584701.1:c.1445del | ENSP00000463151.1:p.Pro482LeufsTer? | |
| NM_002900.2:c.1445del | NP_002891.1:p.Pro482LeufsTer? | |
| NM_002900.3:c.1445del MANE Select | NP_002891.1:p.Pro482LeufsTer? |