Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.2229564C>T , CM000663.2:g.2229564C>T | GRCh38 |
| NC_000001.10:g.2161003C>T , CM000663.1:g.2161003C>T | GRCh37 |
| NC_000001.9:g.2150863C>T | NCBI36 |
| NG_013084.1:g.5870C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003036.4:c.798C>T MANE Select | NP_003027.1:p.Ala266= |
| ENST00000378536.5:c.798C>T MANE Select | ENSP00000367797.4:p.Ala266= |
| NM_003036.3:c.798C>T | NP_003027.1:p.Ala266= |
| ENST00000378536.4:c.798C>T | ENSP00000367797.4:p.Ala266= |
| ENST00000704337.1:n.137+2040C>T | |
| XM_005244775.2:c.798C>T | XP_005244832.1:p.Ala266= |
| XM_005244775.3:c.798C>T | XP_005244832.1:p.Ala266= |