Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52451810C= , CM000665.2:g.52451810C= | GRCh38 |
| NC_000003.11:g.52485826C= , CM000665.1:g.52485826C= | GRCh37 |
| NC_000003.10:g.52460866C= | NCBI36 |
| NG_008963.1:g.7232G= , LRG_378:g.7232G= | |
| NG_033112.1:g.1303C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000232975.8:c.251G= MANE Select | ENSP00000232975.3:p.Cys84= | |
| ENST00000232975.7:c.251G= | ENSP00000232975.3:p.Cys84= | |
| ENST00000461086.1:n.182G= | ||
| ENST00000496590.1:c.119G= | ENSP00000420596.1:p.Cys40= | |
| NM_003280.2:c.251G= , LRG_378t1:c.251G= | NP_003271.1:p.Cys84= | |
| NM_003280.3:c.251G= MANE Select | NP_003271.1:p.Cys84= |