Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232484865C>A , CM000664.2:g.232484865C>A | GRCh38 |
| NC_000002.11:g.233349575C>A , CM000664.1:g.233349575C>A | GRCh37 |
| NC_000002.10:g.233057819C>A | NCBI36 |
| NG_034065.1:g.7995G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304546.6:c.995G>T MANE Select | ENSP00000302051.1:p.Arg332Leu | |
| ENST00000304546.5:c.995G>T | ENSP00000302051.1:p.Arg332Leu | |
| ENST00000409941.1:c.995G>T | ENSP00000386333.1:p.Arg332Leu | |
| ENST00000482346.1:n.1306G>T | ||
| NM_001290787.1:c.995G>T | NP_001277716.1:p.Arg332Leu | |
| NM_004826.3:c.995G>T | NP_004817.2:p.Arg332Leu | |
| NM_004826.4:c.995G>T MANE Select | NP_004817.2:p.Arg332Leu | |
| NM_001290787.2:c.995G>T | NP_001277716.1:p.Arg332Leu |