Linked Data
gnomAD v4:
17-56594946-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.56594946C>A , CM000679.2:g.56594946C>A | GRCh38 |
| NC_000017.10:g.54672307C>A , CM000679.1:g.54672307C>A | GRCh37 |
| NC_000017.9:g.52027306C>A | NCBI36 |
| NG_011958.1:g.6248C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332822.6:c.*24C>A MANE Select | ENSP00000328181.4:n.*24C>A | |
| ENST00000332822.4:c.*24C>A | ENSP00000328181.4:n.*24C>A | |
| NM_005450.4:c.*24C>A | NP_005441.1:n.*24C>A | |
| NM_005450.6:c.*24C>A MANE Select | NP_005441.1:n.*24C>A |