Linked Data
dbSNP Id:
rs1160552303
gnomAD v2:
12-14134749-CG-C
gnomAD v3:
12-13981815-CG-C
gnomAD v4:
12-13981815-CG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.13981821del , CM000674.2:g.13981821del | GRCh38 |
| NC_000012.11:g.14134755del , CM000674.1:g.14134755del | GRCh37 |
| NC_000012.10:g.14026022del | NCBI36 |
| NG_031854.1:g.3273del | |
| NG_031854.2:g.5197del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000630791.2:c.-683+100del | ENSP00000486677.2:n.-683+100del | |
| ENST00000627535.2:c.-448+100del | ENSP00000486411.1:n.-448+100del | |
| ENST00000630791.1:c.-683+100del | ENSP00000486677.1:n.-683+100del | |
| XM_011520629.1:c.-683+100del | XP_011518931.1:n.-683+100del | |
| XM_011520628.2:c.-922del | XP_011518930.1:n.-922del | |
| XM_011520629.2:c.-683+100del | XP_011518931.1:n.-683+100del |