Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.12718081A>C , CM000674.2:g.12718081A>C | GRCh38 |
| NC_000012.11:g.12871015A>C , CM000674.1:g.12871015A>C | GRCh37 |
| NC_000012.10:g.12762282A>C | NCBI36 |
| NG_016341.1:g.5714A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614874.2:c.242A>C | ENSP00000507272.1:p.Lys81Thr | |
| ENST00000682620.1:n.1631-744A>C | ||
| ENST00000684771.1:n.585-744A>C | ||
| ENST00000228872.9:c.242A>C MANE Select | ENSP00000228872.4:p.Lys81Thr | |
| ENST00000228872.8:c.242A>C | ENSP00000228872.4:p.Lys81Thr | |
| ENST00000396340.1:c.242A>C | ENSP00000379629.1:p.Lys81Thr | |
| ENST00000442489.1:c.193+28A>C | ENSP00000407597.1:n.193+28A>C | |
| ENST00000477087.1:n.155-744A>C | ||
| NM_004064.4:c.242A>C | NP_004055.1:p.Lys81Thr | |
| NM_004064.5:c.242A>C MANE Select | NP_004055.1:p.Lys81Thr |