Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.39776775T>C , CM000675.2:g.39776775T>C | GRCh38 |
| NC_000013.10:g.40350912T>C , CM000675.1:g.40350912T>C | GRCh37 |
| NC_000013.9:g.39248912T>C | NCBI36 |
| NG_028352.1:g.126149T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001145079.1:c.1827-11560T>C | NP_001138551.1:n.1827-11560T>C |
| NM_001145079.2:c.1827-11560T>C | NP_001138551.1:n.1827-11560T>C |
| ENST00000416691.5:c.1827-11560T>C | ENSP00000403733.1:n.1827-11560T>C |