Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.13596999A= , CM000685.2:g.13596999A= | GRCh38 |
| NC_000023.10:g.13615118A= , CM000685.1:g.13615118A= | GRCh37 |
| NC_000023.9:g.13525039A= | NCBI36 |
| NG_015963.1:g.32425A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361306.6:c.280+2071A= MANE Select | ENSP00000355126.1:n.280+2071A= | |
| ENST00000361306.5:c.280+2071A= | ENSP00000355126.1:n.280+2071A= | |
| ENST00000380602.3:c.280+2071A= | ENSP00000369976.3:n.280+2071A= | |
| NM_001167890.1:c.280+2071A= | NP_001161362.1:n.280+2071A= | |
| NM_015507.3:c.280+2071A= | NP_056322.2:n.280+2071A= | |
| NM_015507.4:c.280+2071A= MANE Select | NP_056322.2:n.280+2071A= | |
| NM_001167890.2:c.280+2071A= | NP_001161362.1:n.280+2071A= |