Linked Data
gnomAD v4:
12-56041893-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.56041893G>A , CM000674.2:g.56041893G>A | GRCh38 |
| NC_000012.11:g.56435677G>A , CM000674.1:g.56435677G>A | GRCh37 |
| NC_000012.10:g.54721944G>A | NCBI36 |
| NG_023201.1:g.4992G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356464.10:c.-274G>A | ENSP00000348849.5:n.-274G>A | |
| ENST00000356464.9:c.-274G>A | ENSP00000348849.5:n.-274G>A | |
| ENST00000552361.1:c.-206G>A | ENSP00000450339.1:n.-206G>A | |
| XR_944989.3:n.111C>T | ||
| XR_944990.3:n.111C>T |