Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94429248C>T , CM000669.2:g.94429248C>T | GRCh38 |
| NC_000007.13:g.94058560C>T , CM000669.1:g.94058560C>T | GRCh37 |
| NC_000007.12:g.93896496C>T | NCBI36 |
| NG_007405.1:g.39688C>T , LRG_2:g.39688C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000089.4:c.3772C>T MANE Select | NP_000080.2:p.Arg1258Cys |
| ENST00000297268.11:c.3772C>T MANE Select | ENSP00000297268.6:p.Arg1258Cys |
| NM_000089.3:c.3772C>T , LRG_2t1:c.3772C>T | NP_000080.2:p.Arg1258Cys |
| ENST00000297268.10:c.3772C>T | ENSP00000297268.6:p.Arg1258Cys |
| ENST00000464916.1:n.820C>T | |
| ENST00000481570.5:n.4553C>T | |
| ENST00000620463.1:c.3766C>T | ENSP00000477719.1:p.Arg1256Cys |