Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27085220T>G , CM000664.2:g.27085220T>G | GRCh38 |
| NC_000002.11:g.27308088T>G , CM000664.1:g.27308088T>G | GRCh37 |
| NC_000002.10:g.27161592T>G | NCBI36 |
| NG_012199.1:g.3478T>G | |
| NG_046849.1:g.11654T>G | |
| NG_012199.2:g.3478T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380320.9:c.2636T>G MANE Select | ENSP00000369677.4:p.Leu879Trp | |
| ENST00000380320.8:c.2636T>G | ENSP00000369677.4:p.Leu879Trp | |
| ENST00000433140.1:c.628T>G | ||
| NM_007046.3:c.2636T>G | NP_008977.1:p.Leu879Trp | |
| XM_006711928.2:c.2575+212T>G | XP_006711991.1:n.2575+212T>G | |
| NM_007046.4:c.2636T>G MANE Select | NP_008977.1:p.Leu879Trp |