Linked Data
dbSNP Id:
rs775029841
ExAC:
20:44639526 CG / C
gnomAD v2:
20-44639526-CG-C
gnomAD v4:
20-46010887-CG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46010889del , CM000682.2:g.46010889del | GRCh38 |
| NC_000020.10:g.44639528del , CM000682.1:g.44639528del | GRCh37 |
| NC_000020.9:g.44072935del | NCBI36 |
| NG_011468.1:g.6982del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372330.3:c.521-33del MANE Select | ENSP00000361405.3:n.521-33del | |
| NM_004994.2:c.521-33del | NP_004985.2:n.521-33del | |
| NM_004994.3:c.521-33del MANE Select | NP_004985.2:n.521-33del |