Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.14135170C>T , CM000665.2:g.14135170C>T | GRCh38 |
| NC_000003.11:g.14176670C>T , CM000665.1:g.14176670C>T | GRCh37 |
| NC_000003.10:g.14151671C>T | NCBI36 |
| NG_008975.1:g.15231C>T , LRG_435:g.15231C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_024334.3:c.718C>T MANE Select | NP_077310.1:p.Arg240Cys |
| ENST00000306077.5:c.718C>T MANE Select | ENSP00000303992.5:p.Arg240Cys |
| NM_024334.2:c.718C>T , LRG_435t1:c.718C>T | NP_077310.1:p.Arg240Cys |
| ENST00000306077.4:c.718C>T | ENSP00000303992.4:p.Arg240Cys |
| ENST00000432444.2:c.*748C>T | ENSP00000395617.1:n.*748C>T |
| XM_011534109.1:c.613C>T | XP_011532411.1:p.Arg205Cys |
| XM_017007176.2:c.613C>T | XP_016862665.1:p.Arg205Cys |