Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.180631498C>T , CM000665.2:g.180631498C>T | GRCh38 |
| NC_000003.11:g.180349286C>T , CM000665.1:g.180349286C>T | GRCh37 |
| NC_000003.10:g.181831980C>T | NCBI36 |
| NG_029581.1:g.52998G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_181426.2:c.1969G>A MANE Select | NP_852091.1:p.Glu657Lys |
| ENST00000476379.6:c.1969G>A MANE Select | ENSP00000417960.2:p.Glu657Lys |
| NM_181426.1:c.1969G>A | NP_852091.1:p.Glu657Lys |
| ENST00000442201.6:c.1969G>A | ENSP00000405708.2:p.Glu657Lys |
| ENST00000476379.5:c.1969G>A | ENSP00000417960.1:p.Glu657Lys |
| ENST00000650641.1:n.1856G>A | |
| ENST00000651046.1:c.1777G>A | ENSP00000499175.1:p.Glu593Lys |
| ENST00000651922.1:n.1294G>A | |
| ENST00000652408.1:n.2106G>A |