Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.21769300G>T , CM000684.2:g.21769300G>T | GRCh38 |
| NC_000022.10:g.22123589G>T , CM000684.1:g.22123589G>T | GRCh37 |
| NC_000022.9:g.20453589G>T | NCBI36 |
| NG_023054.2:g.103381C>A , LRG_786:g.103381C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002745.5:c.987C>A MANE Select | NP_002736.3:p.Phe329Leu |
| ENST00000215832.11:c.987C>A MANE Select | ENSP00000215832.7:p.Phe329Leu |
| NM_002745.4:c.987C>A , LRG_786t1:c.987C>A | NP_002736.3:p.Phe329Leu |
| NM_138957.3:c.987C>A , LRG_786t2:c.987C>A | NP_620407.1:p.Phe329Leu |
| ENST00000215832.10:c.987C>A | ENSP00000215832.6:p.Phe329Leu |
| ENST00000398822.7:c.987C>A | ENSP00000381803.3:p.Phe329Leu |
| ENST00000491588.1:n.129C>A | |
| ENST00000544786.1:c.855C>A | ENSP00000440842.1:p.Phe285Leu |