Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2445009G= , CM000673.2:g.2445009G= | GRCh38 |
| NC_000011.9:g.2466239G= , CM000673.1:g.2466239G= | GRCh37 |
| NC_000011.8:g.2422815G= | NCBI36 |
| NG_008935.1:g.5019G= , LRG_287:g.5019G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.23+301G= | ENSP00000434560.2:n.23+301G= | |
| ENST00000646564.2:c.-90G= | ENSP00000495806.2:n.-90G= | |
| ENST00000155840.12:c.-90G= MANE Select | ENSP00000155840.2:n.-90G= | |
| ENST00000155840.9:c.-90G= | ENSP00000155840.2:n.-90G= | |
| ENST00000496887.6:c.23+301G= | ENSP00000434560.1:n.23+301G= | |
| NM_000218.2:c.-90G= , LRG_287t1:c.-90G= | NP_000209.2:n.-90G= | |
| NM_000218.3:c.-90G= MANE Select | NP_000209.2:n.-90G= |