Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73946425A>T , CM000677.2:g.73946425A>T | GRCh38 |
| NC_000015.9:g.74238766A>T , CM000677.1:g.74238766A>T | GRCh37 |
| NC_000015.8:g.72025819A>T | NCBI36 |
| NG_011466.1:g.24978A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005576.4:c.1220A>T MANE Select | NP_005567.2:p.Tyr407Phe |
| ENST00000261921.8:c.1220A>T MANE Select | ENSP00000261921.7:p.Tyr407Phe |
| NM_005576.2:c.1220A>T | NP_005567.2:p.Tyr407Phe |
| NM_005576.3:c.1220A>T | NP_005567.2:p.Tyr407Phe |
| ENST00000261921.7:c.1220A>T | ENSP00000261921.7:p.Tyr407Phe |
| ENST00000566011.5:c.*108A>T | ENSP00000457827.1:n.*108A>T |
| ENST00000566530.1:n.58A>T | |
| XM_017022179.1:c.173A>T | XP_016877668.1:p.Tyr58Phe |
| XR_931824.1:n.1737A>T | |
| XR_931824.2:n.1726A>T |