Linked Data
gnomAD v4:
12-56041916-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.56041916T>A , CM000674.2:g.56041916T>A | GRCh38 |
| NC_000012.11:g.56435700T>A , CM000674.1:g.56435700T>A | GRCh37 |
| NC_000012.10:g.54721967T>A | NCBI36 |
| NG_023201.1:g.5015T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356464.10:c.-251T>A | ENSP00000348849.5:n.-251T>A | |
| ENST00000356464.9:c.-251T>A | ENSP00000348849.5:n.-251T>A | |
| ENST00000552361.1:c.-183T>A | ENSP00000450339.1:n.-183T>A | |
| NM_001029.3:c.-251T>A | NP_001020.2:n.-251T>A | |
| XR_944989.3:n.88A>T | ||
| XR_944990.3:n.88A>T |