Linked Data
dbSNP Id:
rs1940179325
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52433788_52433811del , CM000674.2:g.52433788_52433811del | GRCh38 |
| NC_000012.11:g.52827572_52827595del , CM000674.1:g.52827572_52827595del | GRCh37 |
| NC_000012.10:g.51113839_51113862del | NCBI36 |
| NG_008403.1:g.5518_5541del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252245.6:c.496_498+21del | ||
| ENST00000252245.5:c.496_498+21del | ||
| NM_004693.2:c.496_498+21del | ||
| NM_004693.3:c.496_498+21del |