Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.162276832C>A , CM000664.2:g.162276832C>A | GRCh38 |
| NC_000002.11:g.163133342C>A , CM000664.1:g.163133342C>A | GRCh37 |
| NC_000002.10:g.162841588C>A | NCBI36 |
| NG_011495.1:g.46698G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_022168.4:c.2159G>T MANE Select | NP_071451.2:p.Arg720Leu |
| ENST00000649979.2:c.2159G>T MANE Select | ENSP00000497271.1:p.Arg720Leu |
| NM_022168.3:c.2159G>T | NP_071451.2:p.Arg720Leu |
| ENST00000263642.2:c.2159G>T | ENSP00000263642.2:p.Arg720Leu |
| ENST00000648433.1:c.2042G>T | ENSP00000496816.1:p.Arg681Leu |
| ENST00000649554.1:n.1769G>T | |
| ENST00000679938.1:c.1847G>T | ENSP00000505518.1:p.Arg616Leu |
| ENST00000697291.1:c.*1756G>T | ENSP00000513228.1:n.*1756G>T |
| XM_011511628.1:c.1442G>T | XP_011509930.1:p.Arg481Leu |