Linked Data
gnomAD v4:
17-75516248-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75516248T>G , CM000679.2:g.75516248T>G | GRCh38 |
| NC_000017.10:g.73512329T>G , CM000679.1:g.73512329T>G | GRCh37 |
| NC_000017.9:g.71023924T>G | NCBI36 |
| NG_013041.1:g.4721T>G | |
| NG_033152.1:g.4336A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000434205.8:c.-221T>G | ENSP00000406559.4:n.-221T>G | |
| ENST00000679370.1:n.305T>G | ||
| ENST00000434205.7:c.-221T>G | ENSP00000406559.3:n.-221T>G | |
| XM_006721821.2:c.-386T>G | XP_006721884.1:n.-386T>G |