Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73947182T>C , CM000677.2:g.73947182T>C | GRCh38 |
| NC_000015.9:g.74239523T>C , CM000677.1:g.74239523T>C | GRCh37 |
| NC_000015.8:g.72026576T>C | NCBI36 |
| NG_011466.1:g.25735T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005576.4:c.1465T>C MANE Select | NP_005567.2:p.Phe489Leu |
| ENST00000261921.8:c.1465T>C MANE Select | ENSP00000261921.7:p.Phe489Leu |
| NM_005576.2:c.1465T>C | NP_005567.2:p.Phe489Leu |
| NM_005576.3:c.1465T>C | NP_005567.2:p.Phe489Leu |
| ENST00000261921.7:c.1465T>C | ENSP00000261921.7:p.Phe489Leu |
| ENST00000566011.5:c.*353T>C | ENSP00000457827.1:n.*353T>C |
| ENST00000566530.1:n.303T>C | |
| XM_017022179.1:c.418T>C | XP_016877668.1:p.Phe140Leu |
| XR_931824.1:n.1982T>C | |
| XR_931824.2:n.1971T>C |