Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6714524C= , CM000681.2:g.6714524C= | GRCh38 |
| NC_000019.9:g.6714535C= , CM000681.1:g.6714535C= | GRCh37 |
| NC_000019.8:g.6665535C= | NCBI36 |
| NG_009557.1:g.11128G= , LRG_27:g.11128G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.382-78G= | ENSP00000512083.1:n.382-78G= | |
| ENST00000245907.11:c.505-78G= MANE Select | ENSP00000245907.4:n.505-78G= | |
| ENST00000245907.10:c.505-78G= | ENSP00000245907.4:n.505-78G= | |
| NM_000064.3:c.505-78G= | NP_000055.2:n.505-78G= | |
| NM_000064.4:c.505-78G= MANE Select | NP_000055.2:n.505-78G= |