Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30709949C>T , CM000678.2:g.30709949C>T | GRCh38 |
| NC_000016.9:g.30721270C>T , CM000678.1:g.30721270C>T | GRCh37 |
| NC_000016.8:g.30628771C>T | NCBI36 |
| NG_032135.1:g.15809C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006662.3:c.955C>T MANE Select | NP_006653.2:p.Arg319Cys |
| ENST00000262518.9:c.955C>T MANE Select | ENSP00000262518.4:p.Arg319Cys |
| NM_006662.2:c.955C>T | NP_006653.2:p.Arg319Cys |
| ENST00000262518.8:c.955C>T | ENSP00000262518.4:p.Arg319Cys |
| ENST00000380361.7:c.898C>T | ENSP00000369719.3:p.Arg300Cys |
| ENST00000395059.6:c.364C>T | ENSP00000378499.3:p.Arg122Cys |
| ENST00000411466.7:c.955C>T | ENSP00000405186.3:p.Arg319Cys |
| ENST00000483083.3:c.54C>T | |
| ENST00000706321.1:c.955C>T | ENSP00000516346.1:p.Arg319Cys |