Linked Data
gnomAD v4:
11-2159761-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2159761C>T , CM000673.2:g.2159761C>T | GRCh38 |
| NC_000011.9:g.2180991C>T , CM000673.1:g.2180991C>T | GRCh37 |
| NC_000011.8:g.2137567C>T | NCBI36 |
| NG_007114.1:g.6434G>A | |
| NG_050578.1:g.6449G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356578.8:c.187+1024G>A | ENSP00000348986.4:n.187+1024G>A | |
| ENST00000397270.1:c.187+1024G>A | ENSP00000380440.1:n.187+1024G>A | |
| NM_001042376.2:c.187+1024G>A | NP_001035835.1:n.187+1024G>A | |
| NR_003512.3:n.246+1024G>A | ||
| NM_001042376.3:c.187+1024G>A | NP_001035835.1:n.187+1024G>A | |
| NR_003512.4:n.246+1024G>A |