Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.180642162T>A , CM000665.2:g.180642162T>A | GRCh38 |
| NC_000003.11:g.180359950T>A , CM000665.1:g.180359950T>A | GRCh37 |
| NC_000003.10:g.181842644T>A | NCBI36 |
| NG_029581.1:g.42334A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_181426.2:c.1705A>T MANE Select | NP_852091.1:p.Lys569Ter |
| ENST00000476379.6:c.1705A>T MANE Select | ENSP00000417960.2:p.Lys569Ter |
| NM_181426.1:c.1705A>T | NP_852091.1:p.Lys569Ter |
| ENST00000442201.6:c.1705A>T | ENSP00000405708.2:p.Lys569Ter |
| ENST00000476379.5:c.1705A>T | ENSP00000417960.1:p.Lys569Ter |
| ENST00000650641.1:n.1592A>T | |
| ENST00000651046.1:c.1513A>T | ENSP00000499175.1:p.Lys505Ter |
| ENST00000651922.1:n.1030A>T | |
| ENST00000652408.1:n.1842A>T |