Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.51346932C>T , CM000681.2:g.51346932C>T | GRCh38 |
| NC_000019.9:g.51850186C>T , CM000681.1:g.51850186C>T | GRCh37 |
| NC_000019.8:g.56541998C>T | NCBI36 |
| NG_007115.1:g.24487G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001985.3:c.565G>A MANE Select | NP_001976.1:p.Glu189Lys |
| ENST00000309244.9:c.565G>A MANE Select | ENSP00000311930.3:p.Glu189Lys |
| NM_001014763.1:c.838G>A | NP_001014763.1:p.Glu280Lys |
| NM_001985.2:c.565G>A | NP_001976.1:p.Glu189Lys |
| ENST00000309244.8:c.565G>A | ENSP00000311930.3:p.Glu189Lys |
| ENST00000354232.8:c.838G>A | ENSP00000346173.3:p.Glu280Lys |
| ENST00000594361.1:n.1599G>A | |
| ENST00000596253.1:c.406G>A | ENSP00000469628.1:p.Glu136Lys |
| XM_024451418.1:c.454G>A | XP_024307186.1:p.Glu152Lys |