Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2445018C= , CM000673.2:g.2445018C= | GRCh38 |
| NC_000011.9:g.2466248C= , CM000673.1:g.2466248C= | GRCh37 |
| NC_000011.8:g.2422824C= | NCBI36 |
| NG_008935.1:g.5028C= , LRG_287:g.5028C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.23+310C= | ENSP00000434560.2:n.23+310C= | |
| ENST00000646564.2:c.-81C= | ENSP00000495806.2:n.-81C= | |
| ENST00000155840.12:c.-81C= MANE Select | ENSP00000155840.2:n.-81C= | |
| ENST00000155840.9:c.-81C= | ENSP00000155840.2:n.-81C= | |
| ENST00000496887.6:c.23+310C= | ENSP00000434560.1:n.23+310C= | |
| NM_000218.2:c.-81C= , LRG_287t1:c.-81C= | NP_000209.2:n.-81C= | |
| NM_000218.3:c.-81C= MANE Select | NP_000209.2:n.-81C= |