Linked Data
gnomAD v4:
11-5227111-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5227111C>T , CM000673.2:g.5227111C>T | GRCh38 |
| NC_000011.9:g.5248341C>T , CM000673.1:g.5248341C>T | GRCh37 |
| NC_000011.8:g.5204917C>T | NCBI36 |
| NG_000007.3:g.70505G>A | |
| NG_059281.1:g.4961G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.-90G>A | ENSP00000494175.1:n.-90G>A | |
| ENST00000380315.2:c.-18-72G>A | ENSP00000369671.2:n.-18-72G>A |