Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.69648118C>G , CM000673.2:g.69648118C>G | GRCh38 |
| NC_000011.9:g.69462886C>G , CM000673.1:g.69462886C>G | GRCh37 |
| NC_000011.8:g.69172067C>G | NCBI36 |
| NG_007375.1:g.12014C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227507.3:c.699C>G MANE Select | ENSP00000227507.2:p.Leu233= | |
| ENST00000227507.2:c.699C>G | ENSP00000227507.2:p.Leu233= | |
| ENST00000536559.1:c.*119C>G | ENSP00000438482.1:n.*119C>G | |
| ENST00000542367.1:n.162C>G | ||
| ENST00000545484.1:n.405C>G | ||
| NM_053056.2:c.699C>G | NP_444284.1:p.Leu233= | |
| XM_006718653.2:c.723C>G | XP_006718716.1:p.Leu241= | |
| NM_053056.3:c.699C>G MANE Select | NP_444284.1:p.Leu233= |