Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.27924308C= , CM000675.2:g.27924308C= | GRCh38 |
| NC_000013.10:g.28498445C= , CM000675.1:g.28498445C= | GRCh37 |
| NC_000013.9:g.27396445C= | NCBI36 |
| NG_008183.1:g.9278C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381033.5:c.459C= MANE Select | ENSP00000370421.4:p.Tyr153= | |
| ENST00000381033.4:c.459C= | ENSP00000370421.4:p.Tyr153= | |
| NM_000209.3:c.459C= | NP_000200.1:p.Tyr153= | |
| XR_941579.1:n.2185C= | ||
| XR_941580.1:n.1101C= | ||
| XR_941580.2:n.1113C= | ||
| NM_000209.4:c.459C= MANE Select | NP_000200.1:p.Tyr153= |