Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48410947T>A , CM000677.2:g.48410947T>A | GRCh38 |
| NC_000015.9:g.48703144T>A , CM000677.1:g.48703144T>A | GRCh37 |
| NC_000015.8:g.46490436T>A | NCBI36 |
| NG_008805.2:g.239842A>T , LRG_778:g.239842A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000138.5:c.*43A>T MANE Select | NP_000129.3:n.*43A>T |
| ENST00000316623.10:c.*43A>T MANE Select | ENSP00000325527.5:n.*43A>T |
| NM_000138.4:c.*43A>T , LRG_778t1:c.*43A>T | NP_000129.3:n.*43A>T |
| ENST00000316623.9:c.*43A>T | ENSP00000325527.5:n.*43A>T |
| ENST00000559133.5:c.4028A>T | |
| ENST00000559133.6:c.*1467A>T | ENSP00000453958.2:n.*1467A>T |
| ENST00000682158.1:n.2040A>T | |
| ENST00000682170.1:n.2840A>T | |
| ENST00000682767.1:n.1956A>T |