Linked Data
gnomAD v4:
17-75516336-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75516336C>T , CM000679.2:g.75516336C>T | GRCh38 |
| NC_000017.10:g.73512417C>T , CM000679.1:g.73512417C>T | GRCh37 |
| NC_000017.9:g.71024012C>T | NCBI36 |
| NG_013041.1:g.4809C>T | |
| NG_033152.1:g.4248G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000434205.8:c.-133C>T | ENSP00000406559.4:n.-133C>T | |
| ENST00000679370.1:n.393C>T | ||
| ENST00000434205.7:c.-133C>T | ENSP00000406559.3:n.-133C>T | |
| XM_006721821.2:c.-298C>T | XP_006721884.1:n.-298C>T |