Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46001283T>G , CM000683.2:g.46001283T>G | GRCh38 |
| NC_000021.8:g.47421197T>G , CM000683.1:g.47421197T>G | GRCh37 |
| NC_000021.7:g.46245625T>G | NCBI36 |
| NG_008674.1:g.24535T>G , LRG_475:g.24535T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463060.6:n.252T>G | ||
| ENST00000361866.8:c.1853T>G MANE Select | ENSP00000355180.3:p.Phe618Cys | |
| ENST00000361866.7:c.1853T>G | ENSP00000355180.3:p.Phe618Cys | |
| ENST00000463060.5:n.252T>G | ||
| ENST00000498614.5:n.87T>G | ||
| ENST00000612273.1:c.1847T>G | ENSP00000483630.1:p.Phe616Cys | |
| NM_001848.2:c.1853T>G , LRG_475t1:c.1853T>G | NP_001839.2:p.Phe618Cys | |
| NM_001848.3:c.1853T>G MANE Select | NP_001839.2:p.Phe618Cys |