Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.70395157T>C , CM000678.2:g.70395157T>C | GRCh38 |
| NC_000016.9:g.70429060T>C , CM000678.1:g.70429060T>C | GRCh37 |
| NC_000016.8:g.68986561T>C | NCBI36 |
| NG_046942.1:g.48932A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006927.4:c.358A>G MANE Select | NP_008858.1:p.Lys120Glu |
| ENST00000342907.3:c.358A>G MANE Select | ENSP00000345477.2:p.Lys120Glu |
| NM_006927.3:c.358A>G | NP_008858.1:p.Lys120Glu |
| ENST00000342907.2:c.358A>G | ENSP00000345477.2:p.Lys120Glu |
| ENST00000393640.8:c.358A>G | ENSP00000377257.4:p.Lys120Glu |