Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94429430T>C , CM000669.2:g.94429430T>C | GRCh38 |
| NC_000007.13:g.94058742T>C , CM000669.1:g.94058742T>C | GRCh37 |
| NC_000007.12:g.93896678T>C | NCBI36 |
| NG_007405.1:g.39870T>C , LRG_2:g.39870T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000089.4:c.3954T>C MANE Select | NP_000080.2:p.Ser1318= |
| ENST00000297268.11:c.3954T>C MANE Select | ENSP00000297268.6:p.Ser1318= |
| NM_000089.3:c.3954T>C , LRG_2t1:c.3954T>C | NP_000080.2:p.Ser1318= |
| ENST00000297268.10:c.3954T>C | ENSP00000297268.6:p.Ser1318= |
| ENST00000464916.1:n.1002T>C | |
| ENST00000481570.5:n.4735T>C | |
| ENST00000620463.1:c.3948T>C | ENSP00000477719.1:p.Ser1316= |