Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11958627C>A , CM000663.2:g.11958627C>A | GRCh38 |
| NC_000001.10:g.12018684C>A , CM000663.1:g.12018684C>A | GRCh37 |
| NC_000001.9:g.11941271C>A | NCBI36 |
| NG_008159.1:g.28939C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000302.4:c.955C>A MANE Select | NP_000293.2:p.Arg319= |
| ENST00000196061.5:c.955C>A MANE Select | ENSP00000196061.4:p.Arg319= |
| NM_000302.3:c.955C>A | NP_000293.2:p.Arg319= |
| NM_001316320.1:c.1096C>A | NP_001303249.1:p.Arg366= |
| NM_001316320.2:c.1096C>A | NP_001303249.1:p.Arg366= |
| ENST00000196061.4:c.955C>A | ENSP00000196061.4:p.Arg319= |
| XM_011541594.1:c.1036C>A | XP_011539896.1:p.Arg346= |
| XM_024447707.1:c.289C>A | XP_024303475.1:p.Arg97= |