Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.123584643A>T , CM000674.2:g.123584643A>T | GRCh38 |
| NC_000012.11:g.124069190A>T , CM000674.1:g.124069190A>T | GRCh37 |
| NC_000012.10:g.122635143A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262225.8:c.7A>T MANE Select | ENSP00000262225.3:p.Thr3Ser | |
| ENST00000262225.7:c.7A>T | ENSP00000262225.3:p.Thr3Ser | |
| ENST00000438031.2:c.7A>T | ENSP00000405845.2:p.Thr3Ser | |
| ENST00000543425.1:n.95A>T | ||
| ENST00000544188.1:n.46A>T | ||
| NM_006815.3:c.7A>T | NP_006806.1:p.Thr3Ser | |
| XM_005253544.2:c.7A>T | XP_005253601.1:p.Thr3Ser | |
| NM_001321445.1:c.7A>T | NP_001308374.1:p.Thr3Ser | |
| NM_006815.4:c.7A>T MANE Select | NP_006806.1:p.Thr3Ser | |
| NM_001321445.2:c.7A>T | NP_001308374.1:p.Thr3Ser |