Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.78487762T>C , CM000677.2:g.78487762T>C | GRCh38 |
| NC_000015.9:g.78780104T>C , CM000677.1:g.78780104T>C | GRCh37 |
| NC_000015.8:g.76567159T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004136.4:c.1739T>C MANE Select | NP_004127.2:p.Ile580Thr |
| ENST00000258886.13:c.1739T>C MANE Select | ENSP00000258886.8:p.Ile580Thr |
| NM_001320941.2:c.989T>C | NP_001307870.2:p.Ile330Thr |
| NM_001320942.2:c.1568T>C | NP_001307871.2:p.Ile523Thr |
| NM_001354994.2:c.1568T>C | NP_001341923.2:p.Ile523Thr |
| ENST00000258886.12:c.1739T>C | ENSP00000258886.8:p.Ile580Thr |
| ENST00000558570.5:c.*1006T>C | ENSP00000454063.1:n.*1006T>C |
| ENST00000559676.1:n.341T>C |