Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.4197638G>C , CM000666.2:g.4197638G>C | GRCh38 |
| NC_000004.11:g.4199365G>C , CM000666.1:g.4199365G>C | GRCh37 |
| NC_000004.10:g.4250266G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_177998.3:c.1196C>G MANE Select | NP_819056.1:p.Ser399Trp |
| ENST00000296358.5:c.1196C>G MANE Select | ENSP00000296358.4:p.Ser399Trp |
| NM_177998.1:c.1196C>G | NP_819056.1:p.Ser399Trp |
| NM_177998.2:c.1196C>G | NP_819056.1:p.Ser399Trp |
| ENST00000296358.4:c.1196C>G | ENSP00000296358.4:p.Ser399Trp |