Linked Data
ClinVar Variation Id:
713088
ClinVar RCV Id:
RCV000885175
dbSNP Id:
rs557466358
ExAC:
3:183777786 CA / C
gnomAD v2:
3-183777786-CA-C
gnomAD v3:
3-184059998-CA-C
gnomAD v4:
3-184059998-CA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184059999del , CM000665.2:g.184059999del | GRCh38 |
| NC_000003.11:g.183777787del , CM000665.1:g.183777787del | GRCh37 |
| NC_000003.10:g.185260481del | NCBI36 |
| NG_012749.1:g.11953del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318351.2:c.1097del MANE Select | ENSP00000322617.1:p.Gln366ArgfsTer23 | |
| ENST00000318351.1:c.1097del | ENSP00000322617.1:p.Gln366ArgfsTer23 | |
| NM_130770.2:c.1097del | NP_570126.2:p.Gln366ArgfsTer23 | |
| NM_130770.3:c.1097del MANE Select | NP_570126.2:p.Gln366ArgfsTer23 |