Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67894139G= , CM000678.2:g.67894139G= | GRCh38 |
| NC_000016.9:g.67928042G= , CM000678.1:g.67928042G= | GRCh37 |
| NC_000016.8:g.66485543G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006742.3:c.-71+768G= MANE Select | NP_006733.1:n.-71+768G= |
| ENST00000291041.6:c.-71+768G= MANE Select | ENSP00000291041.4:n.-71+768G= |
| NM_006742.2:c.-71+768G= | NP_006733.1:n.-71+768G= |
| ENST00000291041.5:c.-71+768G= | ENSP00000291041.4:n.-71+768G= |
| ENST00000570631.5:c.-71+768G= | ENSP00000482880.1:n.-71+768G= |
| ENST00000575198.1:n.71+768G= |