Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.72911950C= , CM000671.2:g.72911950C= | GRCh38 |
| NC_000009.11:g.75526866C= , CM000671.1:g.75526866C= | GRCh37 |
| NC_000009.10:g.74716686C= | NCBI36 |
| NG_012249.1:g.46104G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000689.5:c.1200+8G= MANE Select | NP_000680.2:n.1200+8G= |
| ENST00000297785.8:c.1200+8G= MANE Select | ENSP00000297785.3:n.1200+8G= |
| NM_000689.4:c.1200+8G= | NP_000680.2:n.1200+8G= |
| ENST00000297785.7:c.1200+8G= | ENSP00000297785.3:n.1200+8G= |