Linked Data
dbSNP Id:
rs1443014486
gnomAD v2:
12-72412558-AT-A
gnomAD v3:
12-72018778-AT-A
gnomAD v4:
12-72018778-AT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.72018782del , CM000674.2:g.72018782del | GRCh38 |
| NC_000012.11:g.72412562del , CM000674.1:g.72412562del | GRCh37 |
| NC_000012.10:g.70698829del | NCBI36 |
| NG_008279.1:g.84937del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333850.4:c.1069-3617del MANE Select | ENSP00000329093.3:n.1069-3617del | |
| ENST00000333850.3:c.1069-3617del | ENSP00000329093.3:n.1069-3617del | |
| NM_173353.3:c.1069-3617del | NP_775489.2:n.1069-3617del | |
| XM_011537899.1:c.475-3617del | XP_011536201.1:n.475-3617del | |
| NM_173353.4:c.1069-3617del MANE Select | NP_775489.2:n.1069-3617del |