Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2448935G>C , CM000678.2:g.2448935G>C | GRCh38 |
| NC_000016.9:g.2498936G>C , CM000678.1:g.2498936G>C | GRCh37 |
| NC_000016.8:g.2438937G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001761.3:c.1175G>C MANE Select | NP_001752.2:p.Arg392Thr |
| ENST00000397066.9:c.1175G>C MANE Select | ENSP00000380256.4:p.Arg392Thr |
| NM_001323538.1:c.251G>C | NP_001310467.1:p.Arg84Thr |
| NM_001323538.2:c.251G>C | NP_001310467.1:p.Arg84Thr |
| NM_001761.2:c.1175G>C | NP_001752.2:p.Arg392Thr |
| ENST00000293968.11:c.*888G>C | ENSP00000293968.7:n.*888G>C |
| ENST00000397066.8:c.1175G>C | ENSP00000380256.4:p.Arg392Thr |
| ENST00000564236.1:c.346G>C |