Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.59269120A>G , CM000680.2:g.59269120A>G | GRCh38 |
| NC_000018.9:g.56936352A>G , CM000680.1:g.56936352A>G | GRCh37 |
| NC_000018.8:g.55087332A>G | NCBI36 |
| NG_013031.1:g.9274T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334889.4:c.925T>C MANE Select | ENSP00000334813.3:p.Phe309Leu | |
| ENST00000256852.7:c.*356T>C | ENSP00000256852.7:n.*356T>C | |
| ENST00000334889.3:c.925T>C | ENSP00000334813.3:p.Phe309Leu | |
| NM_013435.2:c.925T>C | NP_038463.2:p.Phe309Leu | |
| NM_013435.3:c.925T>C MANE Select | NP_038463.2:p.Phe309Leu |