Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.56042123G= , CM000674.2:g.56042123G= | GRCh38 |
| NC_000012.11:g.56435907G= , CM000674.1:g.56435907G= | GRCh37 |
| NC_000012.10:g.54722174G= | NCBI36 |
| NG_023201.1:g.5222G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356464.10:c.-44G= | ENSP00000348849.5:n.-44G= | |
| ENST00000646449.2:c.-44G= MANE Select | ENSP00000496643.1:n.-44G= | |
| ENST00000356464.9:c.-44G= | ENSP00000348849.5:n.-44G= | |
| ENST00000552361.1:c.-34-10G= | ENSP00000450339.1:n.-34-10G= | |
| NM_001029.3:c.-44G= | NP_001020.2:n.-44G= | |
| NM_001029.5:c.-44G= MANE Select | NP_001020.2:n.-44G= |