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