Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.196487548C>T , CM000665.2:g.196487548C>T | GRCh38 |
| NC_000003.11:g.196214419C>T , CM000665.1:g.196214419C>T | GRCh37 |
| NC_000003.10:g.197698816C>T | NCBI36 |
| NG_023425.1:g.21221G>A , LRG_185:g.21221G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318037.3:c.409G>A MANE Select | ENSP00000320898.3:p.Glu137Lys | |
| ENST00000437070.1:c.332G>A | ENSP00000396712.1:p.Arg111Lys | |
| NM_152617.3:c.409G>A , LRG_185t1:c.409G>A | NP_689830.2:p.Glu137Lys | |
| NM_152617.4:c.409G>A MANE Select | NP_689830.2:p.Glu137Lys |