Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.24258646C>A , CM000676.2:g.24258646C>A | GRCh38 |
| NC_000014.8:g.24727852C>A , CM000676.1:g.24727852C>A | GRCh37 |
| NC_000014.7:g.23797692C>A | NCBI36 |
| NG_007150.1:g.9521G>T | |
| NG_007150.2:g.9521G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000359.3:c.1187G>T MANE Select | NP_000350.1:p.Arg396Leu |
| ENST00000206765.11:c.1187G>T MANE Select | ENSP00000206765.6:p.Arg396Leu |
| NM_000359.2:c.1187G>T | NP_000350.1:p.Arg396Leu |
| ENST00000206765.10:c.1187G>T | ENSP00000206765.6:p.Arg396Leu |
| ENST00000544573.5:c.-28-258G>T | ENSP00000439446.1:n.-28-258G>T |
| ENST00000559136.1:c.260G>T | ENSP00000453337.1:p.Arg87Leu |