Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46003129G>T , CM000683.2:g.46003129G>T | GRCh38 |
| NC_000021.8:g.47423043G>T , CM000683.1:g.47423043G>T | GRCh37 |
| NC_000021.7:g.46247471G>T | NCBI36 |
| NG_008674.1:g.26381G>T , LRG_475:g.26381G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001848.3:c.2444G>T MANE Select | NP_001839.2:p.Cys815Phe |
| ENST00000361866.8:c.2444G>T MANE Select | ENSP00000355180.3:p.Cys815Phe |
| NM_001848.2:c.2444G>T , LRG_475t1:c.2444G>T | NP_001839.2:p.Cys815Phe |
| ENST00000361866.7:c.2444G>T | ENSP00000355180.3:p.Cys815Phe |
| ENST00000463060.5:n.843G>T | |
| ENST00000463060.6:n.843G>T | |
| ENST00000486023.1:n.232G>T | |
| ENST00000498614.5:n.678G>T | |
| ENST00000612273.1:c.2438G>T | ENSP00000483630.1:p.Cys813Phe |
| ENST00000612273.2:c.570G>T | |
| ENST00000682634.1:c.570G>T |