Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.99221589C>T , CM000671.2:g.99221589C>T | GRCh38 |
| NC_000009.11:g.101983871C>T , CM000671.1:g.101983871C>T | GRCh37 |
| NC_000009.10:g.101023692C>T | NCBI36 |
| NG_008928.1:g.5376G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000476832.2:c.306G>A MANE Select | ENSP00000417764.1:p.Leu102= | |
| ENST00000238477.5:c.306G>A | ENSP00000432675.2:p.Leu102= | |
| ENST00000476832.1:c.306G>A | ENSP00000417764.1:p.Leu102= | |
| NM_033087.3:c.306G>A | NP_149078.1:p.Leu102= | |
| NR_024532.1:n.376G>A | ||
| NM_033087.4:c.306G>A MANE Select | NP_149078.1:p.Leu102= | |
| NR_024532.2:n.354G>A |