Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26727927G>C , CM000664.2:g.26727927G>C | GRCh38 |
| NC_000002.11:g.26950795G>C , CM000664.1:g.26950795G>C | GRCh37 |
| NC_000002.10:g.26804299G>C | NCBI36 |
| NG_033884.1:g.40215G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002246.3:c.544G>C MANE Select | NP_002237.1:p.Glu182Gln |
| ENST00000302909.4:c.544G>C MANE Select | ENSP00000306275.3:p.Glu182Gln |
| NM_002246.2:c.544G>C | NP_002237.1:p.Glu182Gln |
| ENST00000302909.3:c.544G>C | ENSP00000306275.3:p.Glu182Gln |
| ENST00000620977.1:c.175G>C | ENSP00000483136.1:p.Glu59Gln |
| XM_005264293.1:c.214G>C | XP_005264350.1:p.Glu72Gln |
| XM_005264293.2:c.214G>C | XP_005264350.1:p.Glu72Gln |