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