Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.60371608T>C , CM000680.2:g.60371608T>C | GRCh38 |
| NC_000018.9:g.58038841T>C , CM000680.1:g.58038841T>C | GRCh37 |
| NC_000018.8:g.56189821T>C | NCBI36 |
| NG_016441.1:g.6161A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299766.5:c.742A>G MANE Select | ENSP00000299766.3:p.Thr248Ala | |
| ENST00000299766.4:c.742A>G | ENSP00000299766.3:p.Thr248Ala | |
| NM_005912.2:c.742A>G | NP_005903.2:p.Thr248Ala | |
| NM_005912.3:c.742A>G MANE Select | NP_005903.2:p.Thr248Ala |