Linked Data
gnomAD v4:
11-5253109-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5253109C>T , CM000673.2:g.5253109C>T | GRCh38 |
| NC_000011.9:g.5274339C>T , CM000673.1:g.5274339C>T | GRCh37 |
| NC_000011.8:g.5230915C>T | NCBI36 |
| NG_000007.3:g.44507G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642908.1:c.315+1183G>A | ENSP00000495346.1:n.315+1183G>A | |
| ENST00000647543.1:c.378+234G>A | ENSP00000496470.1:n.378+234G>A | |
| ENST00000620888.4:c.315+1183G>A | ENSP00000479637.1:n.315+1183G>A |