Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.36666519G>T , CM000676.2:g.36666519G>T | GRCh38 |
| NC_000014.8:g.37135724G>T , CM000676.1:g.37135724G>T | GRCh37 |
| NC_000014.7:g.36205475G>T | NCBI36 |
| NG_013357.1:g.13952G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001372076.1:c.689G>T MANE Select | NP_001359005.1:p.Arg230Leu |
| ENST00000361487.7:c.689G>T MANE Select | ENSP00000355245.6:p.Arg230Leu |
| NM_006194.3:c.689G>T | NP_006185.1:p.Arg230Leu |
| NM_006194.4:c.689G>T | NP_006185.1:p.Arg230Leu |
| ENST00000361487.6:c.689G>T | ENSP00000355245.6:p.Arg230Leu |
| ENST00000402703.6:c.689G>T | ENSP00000384817.2:p.Arg230Leu |
| ENST00000554201.1:c.128G>T | ENSP00000450434.1:p.Arg43Leu |
| ENST00000557107.1:n.530G>T |