Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.43946304C>A , CM000684.2:g.43946304C>A | GRCh38 |
| NC_000022.10:g.44342184C>A , CM000684.1:g.44342184C>A | GRCh37 |
| NC_000022.9:g.42673517C>A | NCBI36 |
| NG_008631.1:g.27566C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216180.8:c.1368C>A MANE Select | ENSP00000216180.3:p.Phe456Leu | |
| ENST00000216180.7:c.1368C>A | ENSP00000216180.3:p.Phe456Leu | |
| ENST00000406117.6:c.*849+1509C>A | ENSP00000384668.2:n.*849+1509C>A | |
| ENST00000423180.2:c.1356C>A | ENSP00000397987.2:p.Phe452Leu | |
| NM_025225.2:c.1368C>A | NP_079501.2:p.Phe456Leu | |
| NM_025225.3:c.1368C>A MANE Select | NP_079501.2:p.Phe456Leu |