Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.56041904A= , CM000674.2:g.56041904A= | GRCh38 |
| NC_000012.11:g.56435688A= , CM000674.1:g.56435688A= | GRCh37 |
| NC_000012.10:g.54721955A= | NCBI36 |
| NG_023201.1:g.5003A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356464.10:c.-263A= | ENSP00000348849.5:n.-263A= | |
| ENST00000356464.9:c.-263A= | ENSP00000348849.5:n.-263A= | |
| ENST00000552361.1:c.-195A= | ENSP00000450339.1:n.-195A= | |
| NM_001029.3:c.-263A= | NP_001020.2:n.-263A= | |
| XR_944989.3:n.100T= | ||
| XR_944990.3:n.100T= |