Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128395138A>T , CM000667.2:g.128395138A>T | GRCh38 |
| NC_000005.9:g.127730831A>T , CM000667.1:g.127730831A>T | GRCh37 |
| NC_000005.8:g.127758730A>T | NCBI36 |
| NG_008750.1:g.147905T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703787.1:n.922T>A | ||
| ENST00000262464.9:c.1215T>A MANE Select | ENSP00000262464.4:p.Cys405Ter | |
| ENST00000262464.8:c.1215T>A | ENSP00000262464.4:p.Cys405Ter | |
| ENST00000508053.5:c.1215T>A | ENSP00000424571.1:p.Cys405Ter | |
| ENST00000508989.5:c.1116T>A | ENSP00000425596.1:p.Cys372Ter | |
| ENST00000619499.4:c.1212T>A | ENSP00000482132.1:p.Cys404Ter | |
| NM_001999.3:c.1215T>A | NP_001990.2:p.Cys405Ter | |
| XM_017009228.2:c.1079-1770T>A | XP_016864717.1:n.1079-1770T>A | |
| NM_001999.4:c.1215T>A MANE Select | NP_001990.2:p.Cys405Ter |