Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.185145863C= , CM000666.2:g.185145863C= | GRCh38 |
| NC_000004.11:g.186067017C= , CM000666.1:g.186067017C= | GRCh37 |
| NC_000004.10:g.186304011C= | NCBI36 |
| NG_013001.1:g.7601C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001151.4:c.703C= MANE Select | NP_001142.2:p.Arg235= |
| ENST00000281456.11:c.703C= MANE Select | ENSP00000281456.5:p.Arg235= |
| NM_001151.3:c.703C= | NP_001142.2:p.Arg235= |
| ENST00000281456.10:c.703C= | ENSP00000281456.5:p.Arg235= |
| ENST00000491736.1:c.*480C= | ENSP00000476711.1:n.*480C= |