Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52452140C>T , CM000665.2:g.52452140C>T | GRCh38 |
| NC_000003.11:g.52486156C>T , CM000665.1:g.52486156C>T | GRCh37 |
| NC_000003.10:g.52461196C>T | NCBI36 |
| NG_008963.1:g.6902G>A , LRG_378:g.6902G>A | |
| NG_033112.1:g.1633C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003280.3:c.168G>A MANE Select | NP_003271.1:p.Glu56= |
| ENST00000232975.8:c.168G>A MANE Select | ENSP00000232975.3:p.Glu56= |
| NM_003280.2:c.168G>A , LRG_378t1:c.168G>A | NP_003271.1:p.Glu56= |
| ENST00000232975.7:c.168G>A | ENSP00000232975.3:p.Glu56= |
| ENST00000496590.1:c.36G>A | ENSP00000420596.1:p.Glu12= |