Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42142639T>A , CM000677.2:g.42142639T>A | GRCh38 |
| NC_000015.9:g.42434837T>A , CM000677.1:g.42434837T>A | GRCh37 |
| NC_000015.8:g.40222129T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290497.11:c.*1962A>T | ENSP00000290497.7:n.*1962A>T | |
| ENST00000397272.7:c.2218A>T MANE Select | ENSP00000380442.4:p.Met740Leu | |
| ENST00000562320.1:c.284A>T | ENSP00000455037.1:n.284A>T | |
| ENST00000569985.5:c.*1262A>T | ENSP00000454330.1:n.*1262A>T | |
| NM_213600.3:c.2218A>T | NP_998765.3:p.Met740Leu | |
| NR_033151.1:n.2237A>T | ||
| XR_931785.1:n.2421A>T | ||
| NM_213600.4:c.2218A>T MANE Select | NP_998765.3:p.Met740Leu | |
| NR_033151.2:n.2232A>T |