Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.56041952G= , CM000674.2:g.56041952G= | GRCh38 |
| NC_000012.11:g.56435736G= , CM000674.1:g.56435736G= | GRCh37 |
| NC_000012.10:g.54722003G= | NCBI36 |
| NG_023201.1:g.5051G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356464.10:c.-215G= | ENSP00000348849.5:n.-215G= | |
| ENST00000646449.2:c.-215G= MANE Select | ENSP00000496643.1:n.-215G= | |
| ENST00000356464.9:c.-215G= | ENSP00000348849.5:n.-215G= | |
| ENST00000552361.1:c.-147G= | ENSP00000450339.1:n.-147G= | |
| NM_001029.3:c.-215G= | NP_001020.2:n.-215G= | |
| NM_001029.5:c.-215G= MANE Select | NP_001020.2:n.-215G= | |
| XR_944989.3:n.52C= | ||
| XR_944990.3:n.52C= |