Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48409270G>A , CM000677.2:g.48409270G>A | GRCh38 |
| NC_000015.9:g.48701467G>A , CM000677.1:g.48701467G>A | GRCh37 |
| NC_000015.8:g.46488759G>A | NCBI36 |
| NG_008805.2:g.241519C>T , LRG_778:g.241519C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000138.5:c.*1720C>T MANE Select | NP_000129.3:n.*1720C>T |
| ENST00000316623.10:c.*1720C>T MANE Select | ENSP00000325527.5:n.*1720C>T |
| NM_000138.4:c.*1720C>T , LRG_778t1:c.*1720C>T | NP_000129.3:n.*1720C>T |
| ENST00000316623.9:c.*1720C>T | ENSP00000325527.5:n.*1720C>T |
| ENST00000682170.1:n.4517C>T | |
| ENST00000682767.1:n.3633C>T |