Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.31327524G>C , CM000677.2:g.31327524G>C | GRCh38 |
| NC_000015.9:g.31619727G>C , CM000677.1:g.31619727G>C | GRCh37 |
| NC_000015.8:g.29407019G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_015995.4:c.312G>C MANE Select | NP_057079.2:p.Glu104Asp |
| ENST00000307145.4:c.312G>C MANE Select | ENSP00000302456.3:p.Glu104Asp |
| NM_001302461.1:c.312G>C | NP_001289390.1:p.Glu104Asp |
| NM_001302461.2:c.312G>C | NP_001289390.1:p.Glu104Asp |
| NM_015995.3:c.312G>C | NP_057079.2:p.Glu104Asp |
| ENST00000307145.3:c.312G>C | ENSP00000302456.3:p.Glu104Asp |
| ENST00000618680.4:c.308G>C | ENSP00000484274.1:p.Ser103Thr |