Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55044000T>G , CM000663.2:g.55044000T>G | GRCh38 |
| NC_000001.10:g.55509673T>G , CM000663.1:g.55509673T>G | GRCh37 |
| NC_000001.9:g.55282261T>G | NCBI36 |
| NG_009061.1:g.9454T>G , LRG_275:g.9454T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673913.2:c.365T>G | ENSP00000501161.2:p.Phe122Cys | |
| ENST00000710286.1:c.722T>G | ENSP00000518176.1:p.Phe241Cys | |
| ENST00000673662.1:n.35T>G | ||
| ENST00000673726.1:c.365T>G | ENSP00000501004.1:p.Phe122Cys | |
| ENST00000673903.1:c.-11T>G | ENSP00000501257.1:n.-11T>G | |
| ENST00000302118.5:c.365T>G MANE Select | ENSP00000303208.5:p.Phe122Cys | |
| NM_174936.3:c.365T>G , LRG_275t1:c.365T>G | NP_777596.2:p.Phe122Cys | |
| NR_110451.1:n.182+3597T>G | ||
| NM_174936.4:c.365T>G MANE Select | NP_777596.2:p.Phe122Cys | |
| NR_110451.2:n.182+3597T>G |