Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87727499A= , CM000672.2:g.87727499A= | GRCh38 |
| NC_000010.10:g.89487256A= , CM000672.1:g.89487256A= | GRCh37 |
| NC_000010.9:g.89477236A= | NCBI36 |
| NG_012150.1:g.72781A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000456849.2:c.1086+10A= MANE Select | ENSP00000406157.1:n.1086+10A= | |
| ENST00000361175.8:c.1071+10A= | ENSP00000354436.4:n.1071+10A= | |
| ENST00000456849.1:c.1086+10A= | ENSP00000406157.1:n.1086+10A= | |
| NM_001015880.1:c.1086+10A= | NP_001015880.1:n.1086+10A= | |
| NM_004670.3:c.1071+10A= | NP_004661.2:n.1071+10A= | |
| NM_001015880.2:c.1086+10A= MANE Select | NP_001015880.1:n.1086+10A= | |
| NM_004670.4:c.1071+10A= | NP_004661.2:n.1071+10A= |