Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.55954245C>T , CM000666.2:g.55954245C>T | GRCh38 |
| NC_000004.11:g.56820411C>T , CM000666.1:g.56820411C>T | GRCh37 |
| NC_000004.10:g.56515168C>T | NCBI36 |
| NG_032806.1:g.10438C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706800.1:n.507C>T | ||
| ENST00000257287.5:c.334C>T MANE Select | ENSP00000257287.3:p.Arg112Cys | |
| ENST00000257287.4:c.334C>T | ENSP00000257287.3:p.Arg112Cys | |
| ENST00000422247.6:c.334C>T | ENSP00000412799.2:p.Arg112Cys | |
| NM_025009.4:c.334C>T | NP_079285.2:p.Arg112Cys | |
| XM_006714055.2:c.334C>T | XP_006714118.1:p.Arg112Cys | |
| XR_941064.1:n.472-1774G>A | ||
| XM_005265788.4:c.-734C>T | XP_005265845.1:n.-734C>T | |
| XM_006714055.3:c.334C>T | XP_006714118.1:p.Arg112Cys | |
| NM_025009.5:c.334C>T MANE Select | NP_079285.2:p.Arg112Cys |