Linked Data
gnomAD v4:
12-13981715-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.13981715G>T , CM000674.2:g.13981715G>T | GRCh38 |
| NC_000012.11:g.14134649G>T , CM000674.1:g.14134649G>T | GRCh37 |
| NC_000012.10:g.14025916G>T | NCBI36 |
| NG_031854.1:g.3374C>A | |
| NG_031854.2:g.5298C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000630791.2:c.-682-139C>A | ENSP00000486677.2:n.-682-139C>A | |
| ENST00000627535.2:c.-448+201C>A | ENSP00000486411.1:n.-448+201C>A | |
| ENST00000630791.1:c.-682-139C>A | ENSP00000486677.1:n.-682-139C>A | |
| XM_011520629.1:c.-682-139C>A | XP_011518931.1:n.-682-139C>A | |
| XM_011520628.2:c.-821C>A | XP_011518930.1:n.-821C>A | |
| XM_011520629.2:c.-682-139C>A | XP_011518931.1:n.-682-139C>A |