Linked Data
gnomAD v4:
12-13981809-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.13981809C>T , CM000674.2:g.13981809C>T | GRCh38 |
| NC_000012.11:g.14134743C>T , CM000674.1:g.14134743C>T | GRCh37 |
| NC_000012.10:g.14026010C>T | NCBI36 |
| NG_031854.1:g.3280G>A | |
| NG_031854.2:g.5204G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000630791.2:c.-683+107G>A | ENSP00000486677.2:n.-683+107G>A | |
| ENST00000627535.2:c.-448+107G>A | ENSP00000486411.1:n.-448+107G>A | |
| ENST00000630791.1:c.-683+107G>A | ENSP00000486677.1:n.-683+107G>A | |
| XM_011520629.1:c.-683+107G>A | XP_011518931.1:n.-683+107G>A | |
| XM_011520628.2:c.-915G>A | XP_011518930.1:n.-915G>A | |
| XM_011520629.2:c.-683+107G>A | XP_011518931.1:n.-683+107G>A |