Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67942871G>C , CM000678.2:g.67942871G>C | GRCh38 |
| NC_000016.9:g.67976774G>C , CM000678.1:g.67976774G>C | GRCh37 |
| NC_000016.8:g.66534275G>C | NCBI36 |
| NG_009778.1:g.6242C>G | |
| NG_033098.1:g.30824C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264005.10:c.417C>G MANE Select | ENSP00000264005.5:p.Ser139Arg | |
| ENST00000264005.9:c.417C>G | ENSP00000264005.5:p.Ser139Arg | |
| ENST00000570369.5:c.145C>G | ||
| ENST00000570980.1:c.201C>G | ENSP00000464651.1:p.Ser67Arg | |
| ENST00000573538.5:c.60C>G | ENSP00000463220.1:p.Ser20Arg | |
| ENST00000573846.1:n.31C>G | ||
| ENST00000575277.1:n.195C>G | ||
| ENST00000575467.5:c.*112C>G | ENSP00000460653.1:n.*112C>G | |
| NM_000229.1:c.417C>G | NP_000220.1:p.Ser139Arg | |
| NM_000229.2:c.417C>G MANE Select | NP_000220.1:p.Ser139Arg |