Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55154775T>A , CM000681.2:g.55154775T>A | GRCh38 |
| NC_000019.9:g.55666143T>A , CM000681.1:g.55666143T>A | GRCh37 |
| NC_000019.8:g.60357955T>A | NCBI36 |
| NG_007866.2:g.7958A>T , LRG_432:g.7958A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.338A>T MANE Select | ENSP00000341838.5:p.Asp113Val | |
| ENST00000665070.1:c.338A>T | ENSP00000499482.1:p.Asp113Val | |
| ENST00000344887.9:c.338A>T | ENSP00000341838.5:p.Asp113Val | |
| ENST00000585806.5:n.337A>T | ||
| ENST00000586669.5:n.346A>T | ||
| ENST00000587176.5:n.522A>T | ||
| ENST00000587871.1:c.957A>T | ||
| ENST00000588882.1:c.263A>T | ENSP00000466729.1:p.Asp88Val | |
| ENST00000590463.1:n.510A>T | ||
| NM_000363.4:c.338A>T , LRG_432t1:c.338A>T | NP_000354.4:p.Asp113Val | |
| NM_000363.5:c.338A>T MANE Select | NP_000354.4:p.Asp113Val |