Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.3225340A>C , CM000668.2:g.3225340A>C | GRCh38 |
| NC_000006.11:g.3225574A>C , CM000668.1:g.3225574A>C | GRCh37 |
| NC_000006.10:g.3170573A>C | NCBI36 |
| NG_016715.1:g.7395T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259818.8:c.749T>G MANE Select | ENSP00000259818.6:p.Leu250Arg | |
| ENST00000680070.1:n.1679T>G | ||
| ENST00000681707.1:n.1576T>G | ||
| ENST00000681757.1:n.1054T>G | ||
| ENST00000259818.7:c.749T>G | ENSP00000259818.6:p.Leu250Arg | |
| ENST00000473006.1:n.866T>G | ||
| NM_178012.4:c.749T>G | NP_821080.1:p.Leu250Arg | |
| XM_011514571.1:c.533T>G | XP_011512873.1:p.Leu178Arg | |
| NM_178012.5:c.749T>G MANE Select | NP_821080.1:p.Leu250Arg |