Linked Data
gnomAD v4:
11-5234608-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5234608A>G , CM000673.2:g.5234608A>G | GRCh38 |
| NC_000011.9:g.5255838A>G , CM000673.1:g.5255838A>G | GRCh37 |
| NC_000011.8:g.5212414A>G | NCBI36 |
| NG_000007.3:g.63008T>C | |
| NG_063112.2:g.14050T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643122.1:c.-28-147T>C | ENSP00000494708.1:n.-28-147T>C | |
| ENST00000380299.3:c.-175T>C | ENSP00000369654.3:n.-175T>C | |
| ENST00000429817.1:c.-97-78T>C | ENSP00000393810.1:n.-97-78T>C | |
| NM_000519.3:c.-175T>C | NP_000510.1:n.-175T>C |