Linked Data
dbSNP Id:
rs1847532717
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.114044577_114044578del , CM000672.2:g.114044577_114044578del | GRCh38 |
| NC_000010.10:g.115804336_115804337del , CM000672.1:g.115804336_115804337del | GRCh37 |
| NC_000010.9:g.115794326_115794327del | NCBI36 |
| NG_012187.1:g.5531_5532del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369295.4:c.445_446del MANE Select | ENSP00000358301.2:p.Leu149ValfsTer? | |
| ENST00000369295.3:c.445_446del | ENSP00000358301.2:p.Leu149ValfsTer? | |
| NM_000684.2:c.445_446del | NP_000675.1:p.Leu149ValfsTer? | |
| NM_000684.3:c.445_446del MANE Select | NP_000675.1:p.Leu149ValfsTer? |