Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99420704C= , CM000666.2:g.99420704C= | GRCh38 |
| NC_000004.11:g.100341861C= , CM000666.1:g.100341861C= | GRCh37 |
| NC_000004.10:g.100560884C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000673.7:c.654G= MANE Select | NP_000664.3:p.Arg218= |
| ENST00000437033.7:c.654G= MANE Select | ENSP00000414254.2:p.Arg218= |
| NM_000673.4:c.690G= | NP_000664.2:p.Arg230= |
| NM_001166504.1:c.714G= | NP_001159976.1:p.Arg238= |
| NM_001166504.2:c.714G= | NP_001159976.1:p.Arg238= |
| ENST00000209665.8:c.690G= | ENSP00000209665.4:p.Arg230= |
| ENST00000437033.6:c.654G= | ENSP00000414254.2:p.Arg218= |
| ENST00000476959.5:c.714G= | ENSP00000420269.1:p.Arg238= |
| ENST00000482593.5:c.483G= | ENSP00000420613.1:p.Arg161= |