Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94404512C>T , CM000669.2:g.94404512C>T | GRCh38 |
| NC_000007.13:g.94033824C>T , CM000669.1:g.94033824C>T | GRCh37 |
| NC_000007.12:g.93871760C>T | NCBI36 |
| NG_007405.1:g.14952C>T , LRG_2:g.14952C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297268.11:c.280-44C>T MANE Select | ENSP00000297268.6:n.280-44C>T | |
| ENST00000297268.10:c.280-44C>T | ENSP00000297268.6:n.280-44C>T | |
| ENST00000620463.1:c.274-44C>T | ENSP00000477719.1:n.274-44C>T | |
| NM_000089.3:c.280-44C>T , LRG_2t1:c.280-44C>T | NP_000080.2:n.280-44C>T | |
| NM_000089.4:c.280-44C>T MANE Select | NP_000080.2:n.280-44C>T |