Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.33114134C>A , CM000665.2:g.33114134C>A | GRCh38 |
| NC_000003.11:g.33155626C>A , CM000665.1:g.33155626C>A | GRCh37 |
| NC_000003.10:g.33130630C>A | NCBI36 |
| NG_008122.1:g.5177C>A , LRG_4:g.5177C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006371.5:c.57C>A MANE Select | NP_006362.1:p.Cys19Ter |
| ENST00000320954.11:c.57C>A MANE Select | ENSP00000323696.5:p.Cys19Ter |
| NM_001393363.1:c.57C>A | NP_001380292.1:p.Cys19Ter |
| NM_001393364.1:c.57C>A | NP_001380293.1:p.Cys19Ter |
| NM_001393365.1:c.57C>A | NP_001380294.1:p.Cys19Ter |
| NM_006371.4:c.57C>A , LRG_4t1:c.57C>A | NP_006362.1:p.Cys19Ter |
| ENST00000320954.10:c.57C>A | ENSP00000323696.5:p.Cys19Ter |
| ENST00000449224.1:c.57C>A | ENSP00000409997.1:p.Cys19Ter |