Linked Data
dbSNP Id:
rs773466499
ExAC:
5:145719062 TG / T
gnomAD v2:
5-145719062-TG-T
gnomAD v4:
5-146339499-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.146339500del , CM000667.2:g.146339500del | GRCh38 |
| NC_000005.9:g.145719063del , CM000667.1:g.145719063del | GRCh37 |
| NC_000005.8:g.145699256del | NCBI36 |
| NG_011885.1:g.5477del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646991.2:c.121-48del MANE Select | ENSP00000495718.1:n.121-48del | |
| ENST00000230732.4:c.121-48del | ENSP00000230732.4:n.121-48del | |
| NM_002700.2:c.121-48del | NP_002691.1:n.121-48del | |
| NM_002700.3:c.121-48del MANE Select | NP_002691.1:n.121-48del |