Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67942975C>G , CM000678.2:g.67942975C>G | GRCh38 |
| NC_000016.9:g.67976878C>G , CM000678.1:g.67976878C>G | GRCh37 |
| NC_000016.8:g.66534379C>G | NCBI36 |
| NG_009778.1:g.6138G>C | |
| NG_033098.1:g.30720G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264005.10:c.313G>C MANE Select | ENSP00000264005.5:p.Val105Leu | |
| ENST00000264005.9:c.313G>C | ENSP00000264005.5:p.Val105Leu | |
| ENST00000570369.5:c.41G>C | ||
| ENST00000570980.1:c.97G>C | ENSP00000464651.1:p.Val33Leu | |
| ENST00000575277.1:n.91G>C | ||
| ENST00000575467.5:c.*8G>C | ENSP00000460653.1:n.*8G>C | |
| NM_000229.1:c.313G>C | NP_000220.1:p.Val105Leu | |
| NM_000229.2:c.313G>C MANE Select | NP_000220.1:p.Val105Leu |