Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.121840046C>T , CM000674.2:g.121840046C>T | GRCh38 |
| NC_000012.11:g.122277952C>T , CM000674.1:g.122277952C>T | GRCh37 |
| NC_000012.10:g.120762335C>T | NCBI36 |
| NG_016461.1:g.53566G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002150.3:c.957G>A MANE Select | NP_002141.2:p.Glu319= |
| ENST00000289004.8:c.957G>A MANE Select | ENSP00000289004.4:p.Glu319= |
| NM_001171993.1:c.840G>A | NP_001165464.1:p.Glu280= |
| NM_001171993.2:c.840G>A | NP_001165464.1:p.Glu280= |
| NM_002150.2:c.957G>A | NP_002141.1:p.Glu319= |
| ENST00000543163.5:c.840G>A | ENSP00000441677.1:p.Glu280= |