Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.48659535C>G , CM000665.2:g.48659535C>G | GRCh38 |
| NC_000003.11:g.48696968C>G , CM000665.1:g.48696968C>G | GRCh37 |
| NC_000003.10:g.48671972C>G | NCBI36 |
| NG_034061.1:g.8381G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001407.3:c.3100G>C MANE Select | NP_001398.2:p.Glu1034Gln |
| ENST00000164024.5:c.3100G>C MANE Select | ENSP00000164024.4:p.Glu1034Gln |
| NM_001407.2:c.3100G>C | NP_001398.2:p.Glu1034Gln |
| ENST00000164024.4:c.3100G>C | ENSP00000164024.4:p.Glu1034Gln |