Linked Data
gnomAD v4:
17-56594989-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.56594989T>A , CM000679.2:g.56594989T>A | GRCh38 |
| NC_000017.10:g.54672350T>A , CM000679.1:g.54672350T>A | GRCh37 |
| NC_000017.9:g.52027349T>A | NCBI36 |
| NG_011958.1:g.6291T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332822.6:c.*67T>A MANE Select | ENSP00000328181.4:n.*67T>A | |
| ENST00000332822.4:c.*67T>A | ENSP00000328181.4:n.*67T>A | |
| NM_005450.4:c.*67T>A | NP_005441.1:n.*67T>A | |
| NM_005450.6:c.*67T>A MANE Select | NP_005441.1:n.*67T>A |