Linked Data
gnomAD v4:
12-13981817-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.13981817G>A , CM000674.2:g.13981817G>A | GRCh38 |
| NC_000012.11:g.14134751G>A , CM000674.1:g.14134751G>A | GRCh37 |
| NC_000012.10:g.14026018G>A | NCBI36 |
| NG_031854.1:g.3272C>T | |
| NG_031854.2:g.5196C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000630791.2:c.-683+99C>T | ENSP00000486677.2:n.-683+99C>T | |
| ENST00000627535.2:c.-448+99C>T | ENSP00000486411.1:n.-448+99C>T | |
| ENST00000630791.1:c.-683+99C>T | ENSP00000486677.1:n.-683+99C>T | |
| XM_011520629.1:c.-683+99C>T | XP_011518931.1:n.-683+99C>T | |
| XM_011520628.2:c.-923C>T | XP_011518930.1:n.-923C>T | |
| XM_011520629.2:c.-683+99C>T | XP_011518931.1:n.-683+99C>T |