Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55043982A>T , CM000663.2:g.55043982A>T | GRCh38 |
| NC_000001.10:g.55509655A>T , CM000663.1:g.55509655A>T | GRCh37 |
| NC_000001.9:g.55282243A>T | NCBI36 |
| NG_009061.1:g.9436A>T , LRG_275:g.9436A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673913.2:c.347A>T | ENSP00000501161.2:p.His116Leu | |
| ENST00000710286.1:c.704A>T | ENSP00000518176.1:p.His235Leu | |
| ENST00000673662.1:n.17A>T | ||
| ENST00000673726.1:c.347A>T | ENSP00000501004.1:p.His116Leu | |
| ENST00000673903.1:c.-29A>T | ENSP00000501257.1:n.-29A>T | |
| ENST00000302118.5:c.347A>T MANE Select | ENSP00000303208.5:p.His116Leu | |
| NM_174936.3:c.347A>T , LRG_275t1:c.347A>T | NP_777596.2:p.His116Leu | |
| NR_110451.1:n.182+3579A>T | ||
| NM_174936.4:c.347A>T MANE Select | NP_777596.2:p.His116Leu | |
| NR_110451.2:n.182+3579A>T |