Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73946425A= , CM000677.2:g.73946425A= | GRCh38 |
| NC_000015.9:g.74238766A= , CM000677.1:g.74238766A= | GRCh37 |
| NC_000015.8:g.72025819A= | NCBI36 |
| NG_011466.1:g.24978A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005576.4:c.1220A= MANE Select | NP_005567.2:p.Tyr407= |
| ENST00000261921.8:c.1220A= MANE Select | ENSP00000261921.7:p.Tyr407= |
| NM_005576.2:c.1220A= | NP_005567.2:p.Tyr407= |
| NM_005576.3:c.1220A= | NP_005567.2:p.Tyr407= |
| ENST00000261921.7:c.1220A= | ENSP00000261921.7:p.Tyr407= |
| ENST00000566011.5:c.*108A= | ENSP00000457827.1:n.*108A= |
| ENST00000566530.1:n.58A= | |
| XM_017022179.1:c.173A= | XP_016877668.1:p.Tyr58= |
| XR_931824.1:n.1737A= | |
| XR_931824.2:n.1726A= |