Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102852930G>T , CM000674.2:g.102852930G>T | GRCh38 |
| NC_000012.11:g.103246708G>T , CM000674.1:g.103246708G>T | GRCh37 |
| NC_000012.10:g.101770838G>T | NCBI36 |
| NG_008690.1:g.69673C>A | |
| NG_008690.2:g.110481C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000277.3:c.727C>A MANE Select | NP_000268.1:p.Arg243= |
| ENST00000553106.6:c.727C>A MANE Select | ENSP00000448059.1:p.Arg243= |
| NM_000277.1:c.727C>A | NP_000268.1:p.Arg243= |
| NM_000277.2:c.727C>A | NP_000268.1:p.Arg243= |
| NM_001354304.1:c.727C>A | NP_001341233.1:p.Arg243= |
| NM_001354304.2:c.727C>A | NP_001341233.1:p.Arg243= |
| ENST00000307000.7:c.712C>A | ENSP00000303500.2:p.Arg238= |
| ENST00000549247.6:n.486C>A | |
| ENST00000553106.5:c.727C>A | ENSP00000448059.1:p.Arg243= |
| XM_011538422.1:c.727C>A | XP_011536724.1:p.Arg243= |