Linked Data
gnomAD v4:
11-5227075-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5227075C>A , CM000673.2:g.5227075C>A | GRCh38 |
| NC_000011.9:g.5248305C>A , CM000673.1:g.5248305C>A | GRCh37 |
| NC_000011.8:g.5204881C>A | NCBI36 |
| NG_000007.3:g.70541G>T | |
| NG_059281.1:g.4997G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647020.1:c.-54G>T | ENSP00000494175.1:n.-54G>T | |
| ENST00000380315.2:c.-18-36G>T | ENSP00000369671.2:n.-18-36G>T |