Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1772316C>T , CM000678.2:g.1772316C>T | GRCh38 |
| NC_000016.9:g.1822317C>T , CM000678.1:g.1822317C>T | GRCh37 |
| NC_000016.8:g.1762318C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_023936.2:c.562G>A MANE Select | NP_076425.1:p.Glu188Lys |
| ENST00000397375.7:c.562G>A MANE Select | ENSP00000380531.3:p.Glu188Lys |
| NM_001300900.1:c.583G>A | NP_001287829.1:p.Glu195Lys |
| NM_001300900.2:c.583G>A | NP_001287829.1:p.Glu195Lys |
| NM_023936.1:c.562G>A | NP_076425.1:p.Glu188Lys |
| ENST00000177742.7:c.583G>A | ENSP00000177742.3:p.Glu195Lys |
| ENST00000397375.6:c.562G>A | ENSP00000380531.2:p.Glu188Lys |
| ENST00000569585.1:n.293G>A | |
| XM_017023595.1:c.652G>A | XP_016879084.1:p.Glu218Lys |