Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94427278G>T , CM000669.2:g.94427278G>T | GRCh38 |
| NC_000007.13:g.94056590G>T , CM000669.1:g.94056590G>T | GRCh37 |
| NC_000007.12:g.93894526G>T | NCBI36 |
| NG_007405.1:g.37718G>T , LRG_2:g.37718G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000089.4:c.3250G>T MANE Select | NP_000080.2:p.Gly1084Cys |
| ENST00000297268.11:c.3250G>T MANE Select | ENSP00000297268.6:p.Gly1084Cys |
| NM_000089.3:c.3250G>T , LRG_2t1:c.3250G>T | NP_000080.2:p.Gly1084Cys |
| ENST00000297268.10:c.3250G>T | ENSP00000297268.6:p.Gly1084Cys |
| ENST00000481570.5:n.3700G>T | |
| ENST00000488121.1:n.166G>T | |
| ENST00000492110.1:n.370G>T | |
| ENST00000620463.1:c.3244G>T | ENSP00000477719.1:p.Gly1082Cys |