Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10115572A>G , CM000681.2:g.10115572A>G | GRCh38 |
| NC_000019.9:g.10226248A>G , CM000681.1:g.10226248A>G | GRCh37 |
| NC_000019.8:g.10087248A>G | NCBI36 |
| NG_047007.1:g.9052A>G | |
| NG_051197.1:g.9353T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253108.9:c.854T>C MANE Select | ENSP00000253108.3:p.Ile285Thr | |
| ENST00000253108.8:c.854T>C | ENSP00000253108.3:p.Ile285Thr | |
| ENST00000589454.5:c.830T>C | ENSP00000466860.1:p.Ile277Thr | |
| ENST00000590158.1:n.873T>C | ||
| ENST00000593054.5:c.248T>C | ENSP00000467187.1:p.Ile83Thr | |
| NM_003755.3:c.854T>C | NP_003746.2:p.Ile285Thr | |
| NM_003755.4:c.854T>C | NP_003746.2:p.Ile285Thr | |
| NM_003755.5:c.854T>C MANE Select | NP_003746.2:p.Ile285Thr |