Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232480764C>A , CM000664.2:g.232480764C>A | GRCh38 |
| NC_000002.11:g.233345474C>A , CM000664.1:g.233345474C>A | GRCh37 |
| NC_000002.10:g.233053718C>A | NCBI36 |
| NG_034065.1:g.12096G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304546.6:c.2105G>T MANE Select | ENSP00000302051.1:p.Arg702Leu | |
| ENST00000304546.5:c.2105G>T | ENSP00000302051.1:p.Arg702Leu | |
| ENST00000409941.1:c.2099G>T | ENSP00000386333.1:p.Arg700Leu | |
| ENST00000411860.5:c.284G>T | ENSP00000412683.1:p.Arg95Leu | |
| ENST00000482346.1:n.2416G>T | ||
| NM_001290787.1:c.2099G>T | NP_001277716.1:p.Arg700Leu | |
| NM_004826.3:c.2105G>T | NP_004817.2:p.Arg702Leu | |
| NM_004826.4:c.2105G>T MANE Select | NP_004817.2:p.Arg702Leu | |
| NM_001290787.2:c.2099G>T | NP_001277716.1:p.Arg700Leu |