Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.75198604A>G , CM000664.2:g.75198604A>G | GRCh38 |
| NC_000002.11:g.75425730A>G , CM000664.1:g.75425730A>G | GRCh37 |
| NC_000002.10:g.75279238A>G | NCBI36 |
| NG_029522.1:g.5916T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305249.10:c.331T>C MANE Select | ENSP00000303522.4:p.Phe111Leu | |
| ENST00000305249.9:c.331T>C | ENSP00000303522.4:p.Phe111Leu | |
| ENST00000409848.3:c.331T>C | ENSP00000386448.3:p.Phe111Leu | |
| NM_001058.3:c.331T>C | NP_001049.1:p.Phe111Leu | |
| NM_015727.2:c.331T>C | NP_056542.1:p.Phe111Leu | |
| XR_940257.1:n.108+52144A>G | ||
| XR_940257.2:n.109+52144A>G | ||
| NM_001058.4:c.331T>C MANE Select | NP_001049.1:p.Phe111Leu | |
| NM_015727.3:c.331T>C | NP_056542.1:p.Phe111Leu | |
| NR_168009.1:n.372+42289A>G | ||
| NR_168010.1:n.366+42289A>G |