Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.3443088C>T , CM000666.2:g.3443088C>T | GRCh38 |
| NC_000004.11:g.3444815C>T , CM000666.1:g.3444815C>T | GRCh37 |
| NC_000004.10:g.3414613C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001528.4:c.337C>T MANE Select | NP_001519.1:p.Arg113Cys |
| ENST00000382774.8:c.337C>T MANE Select | ENSP00000372224.4:p.Arg113Cys |
| NM_001297439.1:c.337C>T | NP_001284368.1:p.Arg113Cys |
| NM_001297439.2:c.337C>T | NP_001284368.1:p.Arg113Cys |
| NM_001528.3:c.337C>T | NP_001519.1:p.Arg113Cys |
| ENST00000382774.7:c.337C>T | ENSP00000372224.3:p.Arg113Cys |
| ENST00000511533.1:c.337C>T | ENSP00000421801.1:p.Arg113Cys |
| XM_011513458.1:c.298+176C>T | XP_011511760.1:n.298+176C>T |
| XR_924945.1:n.364C>T |