Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.168581198C>T , CM000663.2:g.168581198C>T | GRCh38 |
| NC_000001.10:g.168550436C>T , CM000663.1:g.168550436C>T | GRCh37 |
| NC_000001.9:g.166817060C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367818.4:c.323C>T MANE Select | ENSP00000356792.3:p.Thr108Ile | |
| ENST00000367818.3:c.323C>T | ENSP00000356792.3:p.Thr108Ile | |
| NM_002995.2:c.323C>T | NP_002986.1:p.Thr108Ile | |
| XM_011509865.1:c.323C>T | XP_011508167.1:p.Thr108Ile | |
| XM_011509865.2:c.323C>T | XP_011508167.1:p.Thr108Ile | |
| NM_002995.3:c.323C>T MANE Select | NP_002986.1:p.Thr108Ile |