Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55154814A>T , CM000681.2:g.55154814A>T | GRCh38 |
| NC_000019.9:g.55666182A>T , CM000681.1:g.55666182A>T | GRCh37 |
| NC_000019.8:g.60357994A>T | NCBI36 |
| NG_007866.2:g.7919T>A , LRG_432:g.7919T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.299T>A MANE Select | ENSP00000341838.5:p.Leu100His | |
| ENST00000665070.1:c.299T>A | ENSP00000499482.1:p.Leu100His | |
| ENST00000344887.9:c.299T>A | ENSP00000341838.5:p.Leu100His | |
| ENST00000585806.5:n.298T>A | ||
| ENST00000586669.5:n.307T>A | ||
| ENST00000587176.5:n.483T>A | ||
| ENST00000587871.1:c.918T>A | ||
| ENST00000588882.1:c.224T>A | ENSP00000466729.1:p.Leu75His | |
| ENST00000590463.1:n.471T>A | ||
| NM_000363.4:c.299T>A , LRG_432t1:c.299T>A | NP_000354.4:p.Leu100His | |
| NM_000363.5:c.299T>A MANE Select | NP_000354.4:p.Leu100His |