Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128392095C>A , CM000667.2:g.128392095C>A | GRCh38 |
| NC_000005.9:g.127727788C>A , CM000667.1:g.127727788C>A | GRCh37 |
| NC_000005.8:g.127755687C>A | NCBI36 |
| NG_008750.1:g.150948G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001999.4:c.1526G>T MANE Select | NP_001990.2:p.Arg509Leu |
| ENST00000262464.9:c.1526G>T MANE Select | ENSP00000262464.4:p.Arg509Leu |
| NM_001999.3:c.1526G>T | NP_001990.2:p.Arg509Leu |
| ENST00000262464.8:c.1526G>T | ENSP00000262464.4:p.Arg509Leu |
| ENST00000508053.5:c.1526G>T | ENSP00000424571.1:p.Arg509Leu |
| ENST00000508989.5:c.1427G>T | ENSP00000425596.1:p.Arg476Leu |
| ENST00000619499.4:c.1523G>T | ENSP00000482132.1:p.Arg508Leu |
| ENST00000703787.1:n.1233G>T | |
| XM_017009228.2:c.1373G>T | XP_016864717.1:p.Arg458Leu |