Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.69648112C>G , CM000673.2:g.69648112C>G | GRCh38 |
| NC_000011.9:g.69462880C>G , CM000673.1:g.69462880C>G | GRCh37 |
| NC_000011.8:g.69172061C>G | NCBI36 |
| NG_007375.1:g.12008C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227507.3:c.693C>G MANE Select | ENSP00000227507.2:p.Arg231= | |
| ENST00000227507.2:c.693C>G | ENSP00000227507.2:p.Arg231= | |
| ENST00000536559.1:c.*113C>G | ENSP00000438482.1:n.*113C>G | |
| ENST00000542367.1:n.156C>G | ||
| ENST00000545484.1:n.399C>G | ||
| NM_053056.2:c.693C>G | NP_444284.1:p.Arg231= | |
| XM_006718653.2:c.717C>G | XP_006718716.1:p.Arg239= | |
| NM_053056.3:c.693C>G MANE Select | NP_444284.1:p.Arg231= |