Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.131890432T>G , CM000668.2:g.131890432T>G | GRCh38 |
| NC_000006.11:g.132211572T>G , CM000668.1:g.132211572T>G | GRCh37 |
| NC_000006.10:g.132253265T>G | NCBI36 |
| NG_008206.1:g.87417T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684674.1:n.1130T>G | ||
| ENST00000647893.1:c.2699T>G MANE Select | ENSP00000498074.1:p.Phe900Cys | |
| ENST00000360971.6:c.2699T>G | ENSP00000354238.2:p.Phe900Cys | |
| ENST00000513998.5:c.*1536T>G | ENSP00000422424.1:n.*1536T>G | |
| NM_006208.2:c.2699T>G | NP_006199.2:p.Phe900Cys | |
| XM_011535896.1:c.1589T>G | XP_011534198.1:p.Phe530Cys | |
| NM_006208.3:c.2699T>G MANE Select | NP_006199.2:p.Phe900Cys |