Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.131877119A>G , CM000668.2:g.131877119A>G | GRCh38 |
| NC_000006.11:g.132198259A>G , CM000668.1:g.132198259A>G | GRCh37 |
| NC_000006.10:g.132239952A>G | NCBI36 |
| NG_008206.1:g.74104A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683687.1:n.723A>G | ||
| ENST00000684536.1:n.349A>G | ||
| ENST00000647893.1:c.1851A>G MANE Select | ENSP00000498074.1:p.Thr617= | |
| ENST00000647981.1:n.536A>G | ||
| ENST00000650437.1:c.1342A>G | ||
| ENST00000360971.6:c.1851A>G | ENSP00000354238.2:p.Thr617= | |
| ENST00000459624.1:n.895A>G | ||
| ENST00000513998.5:c.*688A>G | ENSP00000422424.1:n.*688A>G | |
| NM_006208.2:c.1851A>G | NP_006199.2:p.Thr617= | |
| XM_011535896.1:c.741A>G | XP_011534198.1:p.Thr247= | |
| NM_006208.3:c.1851A>G MANE Select | NP_006199.2:p.Thr617= |