Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.3225433G>A , CM000668.2:g.3225433G>A | GRCh38 |
| NC_000006.11:g.3225667G>A , CM000668.1:g.3225667G>A | GRCh37 |
| NC_000006.10:g.3170666G>A | NCBI36 |
| NG_016715.1:g.7302C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259818.8:c.656C>T MANE Select | ENSP00000259818.6:p.Thr219Ile | |
| ENST00000680070.1:n.1586C>T | ||
| ENST00000681707.1:n.1483C>T | ||
| ENST00000681757.1:n.961C>T | ||
| ENST00000259818.7:c.656C>T | ENSP00000259818.6:p.Thr219Ile | |
| ENST00000473006.1:n.773C>T | ||
| NM_178012.4:c.656C>T | NP_821080.1:p.Thr219Ile | |
| XM_011514571.1:c.440C>T | XP_011512873.1:p.Thr147Ile | |
| NM_178012.5:c.656C>T MANE Select | NP_821080.1:p.Thr219Ile |