Linked Data
gnomAD v4:
11-5234626-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5234626C>G , CM000673.2:g.5234626C>G | GRCh38 |
| NC_000011.9:g.5255856C>G , CM000673.1:g.5255856C>G | GRCh37 |
| NC_000011.8:g.5212432C>G | NCBI36 |
| NG_000007.3:g.62990G>C | |
| NG_063112.2:g.14032G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643122.1:c.-28-165G>C | ENSP00000494708.1:n.-28-165G>C | |
| ENST00000380299.3:c.-193G>C | ENSP00000369654.3:n.-193G>C | |
| ENST00000429817.1:c.-97-96G>C | ENSP00000393810.1:n.-97-96G>C | |
| NM_000519.3:c.-193G>C | NP_000510.1:n.-193G>C |