Linked Data
dbSNP Id:
rs772194160
ExAC:
12:21327584 TTG / T
gnomAD v2:
12-21327584-TTG-T
gnomAD v4:
12-21174650-TTG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21174652_21174653del , CM000674.2:g.21174652_21174653del | GRCh38 |
| NC_000012.11:g.21327586_21327587del , CM000674.1:g.21327586_21327587del | GRCh37 |
| NC_000012.10:g.21218853_21218854del | NCBI36 |
| NG_011745.1:g.48459_48460del , LRG_1022:g.48459_48460del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256958.3:c.302_303del MANE Select | ENSP00000256958.2:p.Cys101PhefsTer24 | |
| ENST00000256958.2:c.302_303del | ENSP00000256958.2:p.Cys101PhefsTer24 | |
| ENST00000543498.5:c.426-2124_426-2123del | ||
| NM_006446.4:c.302_303del , LRG_1022t1:c.302_303del | NP_006437.3:p.Cys101PhefsTer24 | |
| NM_006446.5:c.302_303del MANE Select | NP_006437.3:p.Cys101PhefsTer24 |