Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89776742A>C , CM000677.2:g.89776742A>C | GRCh38 |
| NC_000015.9:g.90319973A>C , CM000677.1:g.90319973A>C | GRCh37 |
| NC_000015.8:g.88120977A>C | NCBI36 |
| NG_008608.1:g.5385A>C | |
| NG_008608.2:g.21152A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001039958.2:c.385A>C MANE Select | NP_001035047.1:p.Ile129Leu |
| ENST00000341735.5:c.385A>C MANE Select | ENSP00000342392.3:p.Ile129Leu |
| NM_001039958.1:c.385A>C | NP_001035047.1:p.Ile129Leu |
| ENST00000341735.3:c.385A>C | ENSP00000342392.3:p.Ile129Leu |
| ENST00000558723.1:n.39-1323A>C | |
| ENST00000560219.2:c.31-1323A>C | ENSP00000452998.1:n.31-1323A>C |