Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55157634G>A , CM000681.2:g.55157634G>A | GRCh38 |
| NC_000019.9:g.55669002G>A , CM000681.1:g.55669002G>A | GRCh37 |
| NC_000019.8:g.60360814G>A | NCBI36 |
| NG_007866.2:g.5099C>T , LRG_432:g.5099C>T | |
| NG_032759.1:g.14089C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000363.5:c.-45C>T MANE Select | NP_000354.4:n.-45C>T |
| ENST00000344887.10:c.-45C>T MANE Select | ENSP00000341838.5:n.-45C>T |
| NM_000363.4:c.-45C>T , LRG_432t1:c.-45C>T | NP_000354.4:n.-45C>T |
| ENST00000344887.9:c.-45C>T | ENSP00000341838.5:n.-45C>T |
| ENST00000586446.1:n.99C>T | |
| ENST00000587176.5:n.140C>T | |
| ENST00000587871.1:c.576C>T | |
| ENST00000590463.1:n.83C>T | |
| ENST00000665070.1:c.-45C>T | ENSP00000499482.1:n.-45C>T |