Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.23199668C= , CM000670.2:g.23199668C= | GRCh38 |
| NC_000008.10:g.23057181C= , CM000670.1:g.23057181C= | GRCh37 |
| NC_000008.9:g.23113126C= | NCBI36 |
| NG_032107.1:g.30500G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003844.4:c.831+218G= MANE Select | NP_003835.3:n.831+218G= |
| ENST00000221132.8:c.831+218G= MANE Select | ENSP00000221132.3:n.831+218G= |
| NM_003844.3:c.831+218G= | NP_003835.3:n.831+218G= |
| ENST00000221132.7:c.831+218G= | ENSP00000221132.3:n.831+218G= |
| ENST00000613472.1:c.357+218G= | ENSP00000480778.1:n.357+218G= |