Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45766992C>G , CM000681.2:g.45766992C>G | GRCh38 |
| NC_000019.9:g.46270250C>G , CM000681.1:g.46270250C>G | GRCh37 |
| NC_000019.8:g.50962090C>G | NCBI36 |
| NG_012745.1:g.7248G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317578.7:c.967G>C MANE Select | ENSP00000316842.4:p.Val323Leu | |
| ENST00000317578.6:c.967G>C | ENSP00000316842.4:p.Val323Leu | |
| ENST00000560160.1:c.587-881G>C | ||
| ENST00000560168.1:c.*155G>C | ENSP00000453189.2:n.*155G>C | |
| ENST00000622857.1:c.16-1030G>C | ENSP00000481365.1:n.16-1030G>C | |
| NM_175875.4:c.967G>C | NP_787071.2:p.Val323Leu | |
| NM_175875.5:c.967G>C MANE Select | NP_787071.3:p.Val323Leu |