Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.119179426C>A , CM000674.2:g.119179426C>A | GRCh38 |
| NC_000012.11:g.119617231C>A , CM000674.1:g.119617231C>A | GRCh37 |
| NC_000012.10:g.118101614C>A | NCBI36 |
| NG_007953.2:g.5637C>A , LRG_249:g.5637C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014365.3:c.114C>A MANE Select | NP_055180.1:p.Asp38Glu |
| ENST00000281938.7:c.114C>A MANE Select | ENSP00000281938.3:p.Asp38Glu |
| NM_014365.2:c.114C>A , LRG_249t1:c.114C>A | NP_055180.1:p.Asp38Glu |
| ENST00000281938.6:c.114C>A | ENSP00000281938.2:p.Asp38Glu |
| ENST00000674542.1:c.114C>A | ENSP00000502352.1:p.Asp38Glu |
| ENST00000676244.1:n.73+5428C>A |