Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8079803A>G , CM000679.2:g.8079803A>G | GRCh38 |
| NC_000017.10:g.7983121A>G , CM000679.1:g.7983121A>G | GRCh37 |
| NC_000017.9:g.7923846A>G | NCBI36 |
| NG_007099.1:g.12901T>C | |
| NG_007099.2:g.12914T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001139.3:c.893T>C MANE Select | NP_001130.1:p.Leu298Pro |
| ENST00000647874.1:c.893T>C MANE Select | ENSP00000497784.1:p.Leu298Pro |
| NM_001139.2:c.893T>C | NP_001130.1:p.Leu298Pro |
| ENST00000319144.4:c.893T>C | ENSP00000315167.4:p.Leu298Pro |
| ENST00000583276.5:n.277T>C | |
| ENST00000584116.1:n.293T>C | |
| ENST00000649809.1:c.101T>C | ENSP00000496845.1:p.Leu34Pro |
| XR_001752778.1:n.34-2A>G |