Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52451469C>T , CM000665.2:g.52451469C>T | GRCh38 |
| NC_000003.11:g.52485485C>T , CM000665.1:g.52485485C>T | GRCh37 |
| NC_000003.10:g.52460525C>T | NCBI36 |
| NG_008963.1:g.7573G>A , LRG_378:g.7573G>A | |
| NG_033112.1:g.962C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000232975.8:c.376G>A MANE Select | ENSP00000232975.3:p.Glu126Lys | |
| ENST00000232975.7:c.376G>A | ENSP00000232975.3:p.Glu126Lys | |
| ENST00000461086.1:n.307G>A | ||
| ENST00000496590.1:c.244G>A | ENSP00000420596.1:p.Glu82Lys | |
| NM_003280.2:c.376G>A , LRG_378t1:c.376G>A | NP_003271.1:p.Glu126Lys | |
| NM_003280.3:c.376G>A MANE Select | NP_003271.1:p.Glu126Lys |