Linked Data
gnomAD v4:
11-2159772-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2159772C>A , CM000673.2:g.2159772C>A | GRCh38 |
| NC_000011.9:g.2181002C>A , CM000673.1:g.2181002C>A | GRCh37 |
| NC_000011.8:g.2137578C>A | NCBI36 |
| NG_007114.1:g.6423G>T | |
| NG_050578.1:g.6438G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356578.8:c.187+1013G>T | ENSP00000348986.4:n.187+1013G>T | |
| ENST00000397270.1:c.187+1013G>T | ENSP00000380440.1:n.187+1013G>T | |
| NM_001042376.2:c.187+1013G>T | NP_001035835.1:n.187+1013G>T | |
| NR_003512.3:n.246+1013G>T | ||
| NM_001042376.3:c.187+1013G>T | NP_001035835.1:n.187+1013G>T | |
| NR_003512.4:n.246+1013G>T |