Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.39690405C>G , CM000669.2:g.39690405C>G | GRCh38 |
| NC_000007.13:g.39730004C>G , CM000669.1:g.39730004C>G | GRCh37 |
| NC_000007.12:g.39696529C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000005257.7:c.138C>G MANE Select | ENSP00000005257.2:p.Thr46= | |
| ENST00000005257.6:c.138C>G | ENSP00000005257.2:p.Thr46= | |
| ENST00000434466.1:c.119C>G | ||
| ENST00000436179.1:c.138C>G | ENSP00000388975.1:p.Thr46= | |
| ENST00000468201.1:n.262-6280C>G | ||
| NM_005402.3:c.138C>G | NP_005393.2:p.Thr46= | |
| XM_006715762.2:c.138C>G | XP_006715825.1:p.Thr46= | |
| XM_011515466.1:c.138C>G | XP_011513768.1:p.Thr46= | |
| XM_006715762.3:c.138C>G | XP_006715825.1:p.Thr46= | |
| NM_005402.4:c.138C>G MANE Select | NP_005393.2:p.Thr46= |