Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46001321T>C , CM000683.2:g.46001321T>C | GRCh38 |
| NC_000021.8:g.47421235T>C , CM000683.1:g.47421235T>C | GRCh37 |
| NC_000021.7:g.46245663T>C | NCBI36 |
| NG_008674.1:g.24573T>C , LRG_475:g.24573T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463060.6:n.290T>C | ||
| ENST00000612273.2:c.17T>C | ||
| ENST00000682634.1:c.17T>C | ||
| ENST00000361866.8:c.1891T>C MANE Select | ENSP00000355180.3:p.Phe631Leu | |
| ENST00000361866.7:c.1891T>C | ENSP00000355180.3:p.Phe631Leu | |
| ENST00000463060.5:n.290T>C | ||
| ENST00000498614.5:n.125T>C | ||
| ENST00000612273.1:c.1885T>C | ENSP00000483630.1:p.Phe629Leu | |
| NM_001848.2:c.1891T>C , LRG_475t1:c.1891T>C | NP_001839.2:p.Phe631Leu | |
| NM_001848.3:c.1891T>C MANE Select | NP_001839.2:p.Phe631Leu |