Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.228166132A= , CM000663.2:g.228166132A= | GRCh38 |
| NC_000001.10:g.228353833A= , CM000663.1:g.228353833A= | GRCh37 |
| NC_000001.9:g.226420456A= | NCBI36 |
| NG_042231.1:g.5325A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366711.4:c.316A= MANE Select | ENSP00000355672.3:p.Thr106= | |
| ENST00000366711.3:c.316A= | ENSP00000355672.3:p.Thr106= | |
| NM_001010867.2:c.316A= | NP_001010867.1:p.Thr106= | |
| NM_001010867.3:c.316A= | NP_001010867.1:p.Thr106= | |
| XM_006711753.2:c.316A= | XP_006711816.1:p.Thr106= | |
| NM_001010867.4:c.316A= MANE Select | NP_001010867.1:p.Thr106= |