Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73323105T>C , CM000677.2:g.73323105T>C | GRCh38 |
| NC_000015.9:g.73615446T>C , CM000677.1:g.73615446T>C | GRCh37 |
| NC_000015.8:g.71402499T>C | NCBI36 |
| NG_009063.1:g.51160A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261917.4:c.2988A>G MANE Select | ENSP00000261917.3:p.Thr996= | |
| ENST00000261917.3:c.2988A>G | ENSP00000261917.3:p.Thr996= | |
| NM_005477.2:c.2988A>G | NP_005468.1:p.Thr996= | |
| XM_011521148.1:c.1770A>G | XP_011519450.1:p.Thr590= | |
| XM_011521148.2:c.1770A>G | XP_011519450.1:p.Thr590= | |
| NM_005477.3:c.2988A>G MANE Select | NP_005468.1:p.Thr996= |