Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.119320746G>C , CM000666.2:g.119320746G>C | GRCh38 |
| NC_000004.11:g.120241901G>C , CM000666.1:g.120241901G>C | GRCh37 |
| NC_000004.10:g.120461349G>C | NCBI36 |
| NG_011444.1:g.6416C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000134.4:c.164C>G MANE Select | NP_000125.2:p.Thr55Ser |
| ENST00000274024.4:c.164C>G MANE Select | ENSP00000274024.3:p.Thr55Ser |
| NM_000134.3:c.164C>G | NP_000125.2:p.Thr55Ser |
| ENST00000274024.3:c.164C>G | ENSP00000274024.3:p.Thr55Ser |