Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.65890852G>T , CM000673.2:g.65890852G>T | GRCh38 |
| NC_000011.9:g.65658323G>T , CM000673.1:g.65658323G>T | GRCh37 |
| NC_000011.8:g.65414899G>T | NCBI36 |
| NG_047103.1:g.2688C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006848.3:c.69G>T MANE Select | NP_006839.2:p.Glu23Asp |
| ENST00000312579.4:c.69G>T MANE Select | ENSP00000311695.2:p.Glu23Asp |
| NM_006848.2:c.69G>T | NP_006839.2:p.Glu23Asp |
| ENST00000312579.3:c.69G>T | ENSP00000311695.2:p.Glu23Asp |