Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.99221660G>A , CM000671.2:g.99221660G>A | GRCh38 |
| NC_000009.11:g.101983942G>A , CM000671.1:g.101983942G>A | GRCh37 |
| NC_000009.10:g.101023763G>A | NCBI36 |
| NG_008928.1:g.5305C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000476832.2:c.235C>T MANE Select | ENSP00000417764.1:p.Leu79= | |
| ENST00000238477.5:c.235C>T | ENSP00000432675.2:p.Leu79= | |
| ENST00000476832.1:c.235C>T | ENSP00000417764.1:p.Leu79= | |
| NM_033087.3:c.235C>T | NP_149078.1:p.Leu79= | |
| NR_024532.1:n.305C>T | ||
| NM_033087.4:c.235C>T MANE Select | NP_149078.1:p.Leu79= | |
| NR_024532.2:n.283C>T |