Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.34856262C>T , CM000668.2:g.34856262C>T | GRCh38 |
| NC_000006.11:g.34824039C>T , CM000668.1:g.34824039C>T | GRCh37 |
| NC_000006.10:g.34932017C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000192788.6:c.1144C>T MANE Select | ENSP00000192788.5:p.Arg382Cys | |
| ENST00000192788.5:c.1144C>T | ENSP00000192788.5:p.Arg382Cys | |
| ENST00000452449.6:c.1144C>T | ENSP00000400628.2:p.Arg382Cys | |
| NM_017754.3:c.1144C>T | NP_060224.3:p.Arg382Cys | |
| XM_005249199.3:c.-15C>T | XP_005249256.1:n.-15C>T | |
| XM_006715126.2:c.1144C>T | XP_006715189.1:p.Arg382Cys | |
| XM_011514714.1:c.1057C>T | XP_011513016.1:p.Arg353Cys | |
| XM_011514715.1:c.148C>T | XP_011513017.1:p.Arg50Cys | |
| NM_017754.4:c.1144C>T MANE Select | NP_060224.3:p.Arg382Cys |