Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.36310850C>A , CM000685.2:g.36310850C>A | GRCh38 |
| NC_000023.10:g.36328965C>A , CM000685.1:g.36328965C>A | GRCh37 |
| NC_000023.9:g.36238886C>A | NCBI36 |
| NG_016381.2:g.396117C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001304548.2:c.8205C>A MANE Select | NP_001291477.1:p.Phe2735Leu |
| ENST00000378653.8:c.8205C>A MANE Select | ENSP00000367922.5:p.Phe2735Leu |
| NM_001304548.1:c.8205C>A | NP_001291477.1:p.Phe2735Leu |
| ENST00000378653.7:c.8205C>A | ENSP00000367922.5:p.Phe2735Leu |
| ENST00000378657.7:c.543C>A | ENSP00000367926.4:p.Phe181Leu |