Linked Data
dbSNP Id:
rs764021644
ExAC:
5:148206907 GC / G
gnomAD v2:
5-148206907-GC-G
gnomAD v4:
5-148827344-GC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.148827345del , CM000667.2:g.148827345del | GRCh38 |
| NC_000005.9:g.148206908del , CM000667.1:g.148206908del | GRCh37 |
| NC_000005.8:g.148187101del | NCBI36 |
| NG_016421.1:g.5753del | |
| NG_016421.2:g.5753del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305988.6:c.514del MANE Select | ENSP00000305372.4:p.His172ThrfsTer? | |
| ENST00000305988.5:c.514del | ENSP00000305372.4:p.His172ThrfsTer? | |
| NM_000024.5:c.514del | NP_000015.1:p.His172ThrfsTer? | |
| NM_000024.6:c.514del MANE Select | NP_000015.2:p.His172ThrfsTer? |