Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116832828T>A , CM000673.2:g.116832828T>A | GRCh38 |
| NC_000011.9:g.116703544T>A , CM000673.1:g.116703544T>A | GRCh37 |
| NC_000011.8:g.116208754T>A | NCBI36 |
| NG_008949.1:g.7921T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000227667.8:c.244T>A MANE Select | ENSP00000227667.2:p.Ser82Thr | |
| ENST00000227667.7:c.244T>A | ENSP00000227667.2:p.Ser82Thr | |
| ENST00000375345.3:c.298T>A | ENSP00000364494.1:p.Ser100Thr | |
| ENST00000630701.1:c.298T>A | ENSP00000486182.1:p.Ser100Thr | |
| NM_000040.1:c.244T>A | NP_000031.1:p.Ser82Thr | |
| NM_000040.2:c.244T>A | NP_000031.1:p.Ser82Thr | |
| NM_000040.3:c.244T>A MANE Select | NP_000031.1:p.Ser82Thr |