Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.27924295C= , CM000675.2:g.27924295C= | GRCh38 |
| NC_000013.10:g.28498432C= , CM000675.1:g.28498432C= | GRCh37 |
| NC_000013.9:g.27396432C= | NCBI36 |
| NG_008183.1:g.9265C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381033.5:c.446C= MANE Select | ENSP00000370421.4:p.Thr149= | |
| ENST00000381033.4:c.446C= | ENSP00000370421.4:p.Thr149= | |
| NM_000209.3:c.446C= | NP_000200.1:p.Thr149= | |
| XR_941578.1:n.3573C= | ||
| XR_941579.1:n.2172C= | ||
| XR_941580.1:n.1088C= | ||
| XR_941578.2:n.3585C= | ||
| XR_941580.2:n.1100C= | ||
| NM_000209.4:c.446C= MANE Select | NP_000200.1:p.Thr149= |