Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18783134G>A , CM000681.2:g.18783134G>A | GRCh38 |
| NC_000019.9:g.18893944G>A , CM000681.1:g.18893944G>A | GRCh37 |
| NC_000019.8:g.18754944G>A | NCBI36 |
| NG_007070.1:g.13171C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.2147C>T MANE Select | ENSP00000222271.2:p.Thr716Ile | |
| ENST00000222271.6:c.2147C>T | ENSP00000222271.2:p.Thr716Ile | |
| ENST00000425807.1:c.1988C>T | ENSP00000403792.1:p.Thr663Ile | |
| ENST00000542601.6:c.2048C>T | ENSP00000439156.2:p.Thr683Ile | |
| NM_000095.2:c.2147C>T | NP_000086.2:p.Thr716Ile | |
| NM_000095.3:c.2147C>T MANE Select | NP_000086.2:p.Thr716Ile |