Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.86052822G>C , CM000664.2:g.86052822G>C | GRCh38 |
| NC_000002.11:g.86279945G>C , CM000664.1:g.86279945G>C | GRCh37 |
| NC_000002.10:g.86133456G>C | NCBI36 |
| NG_050742.2:g.58334C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_015425.6:c.2387C>G MANE Select | NP_056240.2:p.Thr796Ser |
| ENST00000263857.11:c.2387C>G MANE Select | ENSP00000263857.6:p.Thr796Ser |
| NM_015425.3:c.2387C>G | NP_056240.2:p.Thr796Ser |
| NM_015425.5:c.2387C>G | NP_056240.2:p.Thr796Ser |
| ENST00000263857.10:c.2387C>G | ENSP00000263857.6:p.Thr796Ser |
| ENST00000409681.1:c.2387C>G | ENSP00000386300.1:p.Thr796Ser |
| ENST00000683266.1:n.2489C>G | |
| XM_006711983.2:c.2063C>G | XP_006712046.1:p.Thr688Ser |