Linked Data
gnomAD v4:
11-5234699-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5234699A>C , CM000673.2:g.5234699A>C | GRCh38 |
| NC_000011.9:g.5255929A>C , CM000673.1:g.5255929A>C | GRCh37 |
| NC_000011.8:g.5212505A>C | NCBI36 |
| NG_000007.3:g.62917T>G | |
| NG_063112.2:g.13959T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643122.1:c.-28-238T>G | ENSP00000494708.1:n.-28-238T>G | |
| ENST00000429817.1:c.-97-169T>G | ENSP00000393810.1:n.-97-169T>G |