Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.45913627G= , CM000669.2:g.45913627G= | GRCh38 |
| NC_000007.13:g.45953226G= , CM000669.1:g.45953226G= | GRCh37 |
| NC_000007.12:g.45919751G= | NCBI36 |
| NG_011508.1:g.12646C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000613132.5:c.*223C= MANE Select | ENSP00000477772.2:n.*223C= | |
| ENST00000381083.9:c.*223C= | ENSP00000370473.4:n.*223C= | |
| ENST00000275521.10:c.*223C= | ENSP00000275521.5:n.*223C= | |
| ENST00000381086.9:c.*223C= | ENSP00000370476.4:n.*223C= | |
| ENST00000613132.4:c.1036C= | ENSP00000477772.1:n.1036C= | |
| NM_000598.4:c.*223C= | NP_000589.2:n.*223C= | |
| NM_001013398.1:c.*223C= | NP_001013416.1:n.*223C= | |
| NM_001013398.2:c.*223C= | NP_001013416.1:n.*223C= | |
| NM_000598.5:c.*223C= MANE Select | NP_000589.2:n.*223C= |