Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.44942170T>G , CM000664.2:g.44942170T>G | GRCh38 |
| NC_000002.11:g.45169309T>G , CM000664.1:g.45169309T>G | GRCh37 |
| NC_000002.10:g.45022813T>G | NCBI36 |
| NG_016222.1:g.5273T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260653.5:c.66T>G MANE Select | ENSP00000260653.3:p.Ser22= | |
| ENST00000260653.4:c.66T>G | ENSP00000260653.3:p.Ser22= | |
| NM_005413.3:c.66T>G | NP_005404.1:p.Ser22= | |
| XM_011533042.1:c.66T>G | XP_011531344.1:p.Ser22= | |
| NM_005413.4:c.66T>G MANE Select | NP_005404.1:p.Ser22= |