Linked Data
dbSNP Id:
rs769245162
ExAC:
18:28906533 AT / A
gnomAD v2:
18-28906533-AT-A
gnomAD v4:
18-31326570-AT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31326576del , CM000680.2:g.31326576del | GRCh38 |
| NC_000018.9:g.28906539del , CM000680.1:g.28906539del | GRCh37 |
| NC_000018.8:g.27160537del | NCBI36 |
| NG_011803.2:g.13488del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257192.5:c.49-5del MANE Select | ENSP00000257192.4:n.49-5del | |
| ENST00000257192.4:c.49-5del | ENSP00000257192.4:n.49-5del | |
| NM_001942.3:c.49-5del | NP_001933.2:n.49-5del | |
| NM_001942.4:c.49-5del MANE Select | NP_001933.2:n.49-5del |