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