Linked Data
dbSNP Id:
rs1168498196
gnomAD v2:
12-12871362-CT-C
gnomAD v3:
12-12718428-CT-C
gnomAD v4:
12-12718428-CT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.12718431del , CM000674.2:g.12718431del | GRCh38 |
| NC_000012.11:g.12871365del , CM000674.1:g.12871365del | GRCh37 |
| NC_000012.10:g.12762632del | NCBI36 |
| NG_016341.1:g.6064del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614874.2:c.475+117del | ENSP00000507272.1:n.475+117del | |
| ENST00000682620.1:n.1631-394del | ||
| ENST00000684771.1:n.585-394del | ||
| ENST00000228872.9:c.475+117del MANE Select | ENSP00000228872.4:n.475+117del | |
| ENST00000228872.8:c.475+117del | ENSP00000228872.4:n.475+117del | |
| ENST00000396340.1:c.475+117del | ENSP00000379629.1:n.475+117del | |
| ENST00000442489.1:c.193+378del | ENSP00000407597.1:n.193+378del | |
| ENST00000477087.1:n.155-394del | ||
| NM_004064.4:c.475+117del | NP_004055.1:n.475+117del | |
| NM_004064.5:c.475+117del MANE Select | NP_004055.1:n.475+117del |