Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94429291G>T , CM000669.2:g.94429291G>T | GRCh38 |
| NC_000007.13:g.94058603G>T , CM000669.1:g.94058603G>T | GRCh37 |
| NC_000007.12:g.93896539G>T | NCBI36 |
| NG_007405.1:g.39731G>T , LRG_2:g.39731G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000089.4:c.3815G>T MANE Select | NP_000080.2:p.Cys1272Phe |
| ENST00000297268.11:c.3815G>T MANE Select | ENSP00000297268.6:p.Cys1272Phe |
| NM_000089.3:c.3815G>T , LRG_2t1:c.3815G>T | NP_000080.2:p.Cys1272Phe |
| ENST00000297268.10:c.3815G>T | ENSP00000297268.6:p.Cys1272Phe |
| ENST00000464916.1:n.863G>T | |
| ENST00000481570.5:n.4596G>T | |
| ENST00000620463.1:c.3809G>T | ENSP00000477719.1:p.Cys1270Phe |