Linked Data
ClinVar Variation Id:
311407
ClinVar RCV Id:
RCV000360524
dbSNP Id:
rs886050040
gnomAD v2:
13-22245461-A-AT
gnomAD v3:
13-21671322-A-AT
gnomAD v4:
13-21671322-A-AT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.21671328dup , CM000675.2:g.21671328dup | GRCh38 |
| NC_000013.10:g.22245467dup , CM000675.1:g.22245467dup | GRCh37 |
| NC_000013.9:g.21143467dup | NCBI36 |
| NG_016272.1:g.5253dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382353.6:c.-585dup MANE Select | ENSP00000371790.5:n.-585dup | |
| NM_002010.2:c.-585dup | NP_002001.1:n.-585dup | |
| NM_002010.3:c.-585dup MANE Select | NP_002001.1:n.-585dup |