Linked Data
gnomAD v4:
11-5234624-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5234624G>T , CM000673.2:g.5234624G>T | GRCh38 |
| NC_000011.9:g.5255854G>T , CM000673.1:g.5255854G>T | GRCh37 |
| NC_000011.8:g.5212430G>T | NCBI36 |
| NG_000007.3:g.62992C>A | |
| NG_063112.2:g.14034C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643122.1:c.-28-163C>A | ENSP00000494708.1:n.-28-163C>A | |
| ENST00000380299.3:c.-191C>A | ENSP00000369654.3:n.-191C>A | |
| ENST00000429817.1:c.-97-94C>A | ENSP00000393810.1:n.-97-94C>A | |
| NM_000519.3:c.-191C>A | NP_000510.1:n.-191C>A |