Linked Data
gnomAD v4:
12-56042110-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.56042110G>A , CM000674.2:g.56042110G>A | GRCh38 |
| NC_000012.11:g.56435894G>A , CM000674.1:g.56435894G>A | GRCh37 |
| NC_000012.10:g.54722161G>A | NCBI36 |
| NG_023201.1:g.5209G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356464.10:c.-57G>A | ENSP00000348849.5:n.-57G>A | |
| ENST00000646449.2:c.-57G>A MANE Select | ENSP00000496643.1:n.-57G>A | |
| ENST00000356464.9:c.-57G>A | ENSP00000348849.5:n.-57G>A | |
| ENST00000552361.1:c.-34-23G>A | ENSP00000450339.1:n.-34-23G>A | |
| NM_001029.3:c.-57G>A | NP_001020.2:n.-57G>A | |
| NM_001029.5:c.-57G>A MANE Select | NP_001020.2:n.-57G>A |