Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.3225493G= , CM000668.2:g.3225493G= | GRCh38 |
| NC_000006.11:g.3225727G= , CM000668.1:g.3225727G= | GRCh37 |
| NC_000006.10:g.3170726G= | NCBI36 |
| NG_016715.1:g.7242C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259818.8:c.596C= MANE Select | ENSP00000259818.6:p.Thr199= | |
| ENST00000680070.1:n.1526C= | ||
| ENST00000681707.1:n.1423C= | ||
| ENST00000681757.1:n.901C= | ||
| ENST00000259818.7:c.596C= | ENSP00000259818.6:p.Thr199= | |
| ENST00000473006.1:n.713C= | ||
| NM_178012.4:c.596C= | NP_821080.1:p.Thr199= | |
| XM_011514571.1:c.380C= | XP_011512873.1:p.Thr127= | |
| NM_178012.5:c.596C= MANE Select | NP_821080.1:p.Thr199= |