Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2445010T>A , CM000673.2:g.2445010T>A | GRCh38 |
| NC_000011.9:g.2466240T>A , CM000673.1:g.2466240T>A | GRCh37 |
| NC_000011.8:g.2422816T>A | NCBI36 |
| NG_008935.1:g.5020T>A , LRG_287:g.5020T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.23+302T>A | ENSP00000434560.2:n.23+302T>A | |
| ENST00000646564.2:c.-89T>A | ENSP00000495806.2:n.-89T>A | |
| ENST00000155840.12:c.-89T>A MANE Select | ENSP00000155840.2:n.-89T>A | |
| ENST00000155840.9:c.-89T>A | ENSP00000155840.2:n.-89T>A | |
| ENST00000496887.6:c.23+302T>A | ENSP00000434560.1:n.23+302T>A | |
| NM_000218.2:c.-89T>A , LRG_287t1:c.-89T>A | NP_000209.2:n.-89T>A | |
| NM_000218.3:c.-89T>A MANE Select | NP_000209.2:n.-89T>A |