Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.3225643G>A , CM000668.2:g.3225643G>A | GRCh38 |
| NC_000006.11:g.3225877G>A , CM000668.1:g.3225877G>A | GRCh37 |
| NC_000006.10:g.3170876G>A | NCBI36 |
| NG_016715.1:g.7092C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259818.8:c.446C>T MANE Select | ENSP00000259818.6:p.Thr149Ile | |
| ENST00000680070.1:n.1376C>T | ||
| ENST00000681707.1:n.1273C>T | ||
| ENST00000681757.1:n.751C>T | ||
| ENST00000259818.7:c.446C>T | ENSP00000259818.6:p.Thr149Ile | |
| ENST00000473006.1:n.563C>T | ||
| NM_178012.4:c.446C>T | NP_821080.1:p.Thr149Ile | |
| XM_011514571.1:c.230C>T | XP_011512873.1:p.Thr77Ile | |
| NM_178012.5:c.446C>T MANE Select | NP_821080.1:p.Thr149Ile |