Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116832823A>C , CM000673.2:g.116832823A>C | GRCh38 |
| NC_000011.9:g.116703539A>C , CM000673.1:g.116703539A>C | GRCh37 |
| NC_000011.8:g.116208749A>C | NCBI36 |
| NG_008949.1:g.7916A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227667.8:c.239A>C MANE Select | ENSP00000227667.2:p.Lys80Thr | |
| ENST00000227667.7:c.239A>C | ENSP00000227667.2:p.Lys80Thr | |
| ENST00000375345.3:c.293A>C | ENSP00000364494.1:p.Lys98Thr | |
| ENST00000630701.1:c.293A>C | ENSP00000486182.1:p.Lys98Thr | |
| NM_000040.1:c.239A>C | NP_000031.1:p.Lys80Thr | |
| NM_000040.2:c.239A>C | NP_000031.1:p.Lys80Thr | |
| NM_000040.3:c.239A>C MANE Select | NP_000031.1:p.Lys80Thr |