Linked Data
gnomAD v4:
12-56041890-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.56041890C>A , CM000674.2:g.56041890C>A | GRCh38 |
| NC_000012.11:g.56435674C>A , CM000674.1:g.56435674C>A | GRCh37 |
| NC_000012.10:g.54721941C>A | NCBI36 |
| NG_023201.1:g.4989C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356464.10:c.-277C>A | ENSP00000348849.5:n.-277C>A | |
| ENST00000356464.9:c.-277C>A | ENSP00000348849.5:n.-277C>A | |
| XR_944989.3:n.114G>T | ||
| XR_944990.3:n.114G>T |