Linked Data
ClinVar Variation Id:
66600
dbSNP Id:
rs267607472
ExAC:
12:52845344 CTTG / C
gnomAD v2:
12-52845344-CTTG-C
gnomAD v4:
12-52451560-CTTG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52451567_52451569del , CM000674.2:g.52451567_52451569del | GRCh38 |
| NC_000012.11:g.52845351_52845353del , CM000674.1:g.52845351_52845353del | GRCh37 |
| NC_000012.10:g.51131618_51131620del | NCBI36 |
| NG_008299.1:g.5564_5566del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252252.4:c.516_518del MANE Select | ENSP00000252252.3:p.Asn172del | |
| ENST00000252252.3:c.516_518del | ENSP00000252252.3:p.Asn172del | |
| NM_005555.3:c.516_518del | NP_005546.2:p.Asn172del | |
| NM_005555.4:c.516_518del MANE Select | NP_005546.2:p.Asn172del |