Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94427025A>G , CM000669.2:g.94427025A>G | GRCh38 |
| NC_000007.13:g.94056337A>G , CM000669.1:g.94056337A>G | GRCh37 |
| NC_000007.12:g.93894273A>G | NCBI36 |
| NG_007405.1:g.37465A>G , LRG_2:g.37465A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000089.4:c.3123A>G MANE Select | NP_000080.2:p.Gln1041= |
| ENST00000297268.11:c.3123A>G MANE Select | ENSP00000297268.6:p.Gln1041= |
| NM_000089.3:c.3123A>G , LRG_2t1:c.3123A>G | NP_000080.2:p.Gln1041= |
| ENST00000297268.10:c.3123A>G | ENSP00000297268.6:p.Gln1041= |
| ENST00000481570.5:n.3573A>G | |
| ENST00000488121.1:n.39A>G | |
| ENST00000492110.1:n.243A>G | |
| ENST00000620463.1:c.3117A>G | ENSP00000477719.1:p.Gln1039= |