Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.22825366C>T , CM000677.2:g.22825366C>T | GRCh38 |
| NC_000015.9:g.23047702G>A , CM000677.1:g.23047702G>A | GRCh37 |
| NC_000015.8:g.20599143G>A | NCBI36 |
| NG_009056.1:g.44142C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337435.9:c.*1127C>T MANE Select | ENSP00000337452.4:n.*1127C>T | |
| ENST00000337435.8:c.*1127C>T | ENSP00000337452.4:n.*1127C>T | |
| ENST00000437912.6:c.*1127C>T | ENSP00000393962.2:n.*1127C>T | |
| ENST00000559448.5:c.2089C>T | ||
| NM_001142275.1:c.*1127C>T | NP_001135747.1:n.*1127C>T | |
| NM_144599.4:c.*1127C>T | NP_653200.2:n.*1127C>T | |
| NM_144599.5:c.*1127C>T MANE Select | NP_653200.2:n.*1127C>T |