Linked Data
gnomAD v4:
11-5234694-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5234694A>C , CM000673.2:g.5234694A>C | GRCh38 |
| NC_000011.9:g.5255924A>C , CM000673.1:g.5255924A>C | GRCh37 |
| NC_000011.8:g.5212500A>C | NCBI36 |
| NG_000007.3:g.62922T>G | |
| NG_063112.2:g.13964T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643122.1:c.-28-233T>G | ENSP00000494708.1:n.-28-233T>G | |
| ENST00000429817.1:c.-97-164T>G | ENSP00000393810.1:n.-97-164T>G |