Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.151618140T>G , CM000668.2:g.151618140T>G | GRCh38 |
| NC_000006.11:g.151939275T>G , CM000668.1:g.151939275T>G | GRCh37 |
| NC_000006.10:g.151980968T>G | NCBI36 |
| NG_021198.1:g.129101T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000239374.8:c.2141T>G MANE Select | ENSP00000239374.6:p.Leu714Arg | |
| ENST00000239374.7:c.2141T>G | ENSP00000239374.6:p.Leu714Arg | |
| NM_025059.3:c.2141T>G | NP_079335.2:p.Leu714Arg | |
| XM_011536147.1:c.2159T>G | XP_011534449.1:p.Leu720Arg | |
| XM_011536148.1:c.1958T>G | XP_011534450.1:p.Leu653Arg | |
| XM_011536147.2:c.2159T>G | XP_011534449.1:p.Leu720Arg | |
| XM_011536148.2:c.1958T>G | XP_011534450.1:p.Leu653Arg | |
| NM_025059.4:c.2141T>G MANE Select | NP_079335.2:p.Leu714Arg |