Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8076295A>G , CM000679.2:g.8076295A>G | GRCh38 |
| NC_000017.10:g.7979613A>G , CM000679.1:g.7979613A>G | GRCh37 |
| NC_000017.9:g.7920338A>G | NCBI36 |
| NG_007099.1:g.16409T>C | |
| NG_007099.2:g.16422T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647874.1:c.1412T>C MANE Select | ENSP00000497784.1:p.Leu471Pro | |
| ENST00000649809.1:c.476T>C | ENSP00000496845.1:p.Leu159Pro | |
| ENST00000319144.4:c.1412T>C | ENSP00000315167.4:p.Leu471Pro | |
| ENST00000577351.5:n.359T>C | ||
| ENST00000583276.5:n.796T>C | ||
| ENST00000584116.1:n.668T>C | ||
| NM_001139.2:c.1412T>C | NP_001130.1:p.Leu471Pro | |
| NM_001139.3:c.1412T>C MANE Select | NP_001130.1:p.Leu471Pro |