Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66560722C>T , CM000673.2:g.66560722C>T | GRCh38 |
| NC_000011.9:g.66328193C>T , CM000673.1:g.66328193C>T | GRCh37 |
| NC_000011.8:g.66084769C>T | NCBI36 |
| NG_013304.2:g.18803C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000513398.2:c.1827C>T MANE Select | ENSP00000426797.1:p.Leu609= | |
| ENST00000502692.5:c.1956C>T | ENSP00000422007.1:p.Leu652= | |
| ENST00000513398.1:c.1827C>T | ENSP00000426797.1:p.Leu609= | |
| NM_001104.3:c.1827C>T | NP_001095.2:p.Leu609= | |
| NM_001258371.2:c.1956C>T | NP_001245300.2:p.Leu652= | |
| NM_001104.4:c.1827C>T MANE Select | NP_001095.2:p.Leu609= | |
| NM_001258371.3:c.1956C>T | NP_001245300.2:p.Leu652= |