Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.3225490T>G , CM000668.2:g.3225490T>G | GRCh38 |
| NC_000006.11:g.3225724T>G , CM000668.1:g.3225724T>G | GRCh37 |
| NC_000006.10:g.3170723T>G | NCBI36 |
| NG_016715.1:g.7245A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259818.8:c.599A>C MANE Select | ENSP00000259818.6:p.Tyr200Ser | |
| ENST00000680070.1:n.1529A>C | ||
| ENST00000681707.1:n.1426A>C | ||
| ENST00000681757.1:n.904A>C | ||
| ENST00000259818.7:c.599A>C | ENSP00000259818.6:p.Tyr200Ser | |
| ENST00000473006.1:n.716A>C | ||
| NM_178012.4:c.599A>C | NP_821080.1:p.Tyr200Ser | |
| XM_011514571.1:c.383A>C | XP_011512873.1:p.Tyr128Ser | |
| NM_178012.5:c.599A>C MANE Select | NP_821080.1:p.Tyr200Ser |