Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.17041051G>T , CM000672.2:g.17041051G>T | GRCh38 |
| NC_000010.10:g.17083050G>T , CM000672.1:g.17083050G>T | GRCh37 |
| NC_000010.9:g.17123056G>T | NCBI36 |
| NG_008967.1:g.93767C>A , LRG_540:g.93767C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377833.10:c.3999C>A MANE Select | ENSP00000367064.4:p.Cys1333Ter | |
| ENST00000377833.8:c.3999C>A | ENSP00000367064.4:p.Cys1333Ter | |
| NM_001081.3:c.3999C>A , LRG_540t1:c.3999C>A | NP_001072.2:p.Cys1333Ter | |
| XM_011519708.1:c.3999C>A | XP_011518010.1:p.Cys1333Ter | |
| XM_011519708.2:c.3999C>A | XP_011518010.1:p.Cys1333Ter | |
| NM_001081.4:c.3999C>A MANE Select | NP_001072.2:p.Cys1333Ter |