Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.176787A>T , CM000678.2:g.176787A>T | GRCh38 |
| NC_000016.9:g.226786A>T , CM000678.1:g.226786A>T | GRCh37 |
| NC_000016.8:g.166786A>T | NCBI36 |
| NG_000006.1:g.37650A>T | |
| NG_059186.1:g.5137A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000558.5:c.71A>T MANE Select | NP_000549.1:p.Glu24Val |
| ENST00000320868.9:c.71A>T MANE Select | ENSP00000322421.5:p.Glu24Val |
| NM_000558.4:c.71A>T | NP_000549.1:p.Glu24Val |
| ENST00000397797.1:c.-2+25A>T | ENSP00000380899.1:n.-2+25A>T |
| ENST00000472694.1:n.90A>T | |
| ENST00000487791.1:n.40A>T |