Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102852903G>T , CM000674.2:g.102852903G>T | GRCh38 |
| NC_000012.11:g.103246681G>T , CM000674.1:g.103246681G>T | GRCh37 |
| NC_000012.10:g.101770811G>T | NCBI36 |
| NG_008690.1:g.69700C>A | |
| NG_008690.2:g.110508C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000277.3:c.754C>A MANE Select | NP_000268.1:p.Arg252= |
| ENST00000553106.6:c.754C>A MANE Select | ENSP00000448059.1:p.Arg252= |
| NM_000277.1:c.754C>A | NP_000268.1:p.Arg252= |
| NM_000277.2:c.754C>A | NP_000268.1:p.Arg252= |
| NM_001354304.1:c.754C>A | NP_001341233.1:p.Arg252= |
| NM_001354304.2:c.754C>A | NP_001341233.1:p.Arg252= |
| ENST00000307000.7:c.739C>A | ENSP00000303500.2:p.Arg247= |
| ENST00000549247.6:n.513C>A | |
| ENST00000553106.5:c.754C>A | ENSP00000448059.1:p.Arg252= |
| XM_011538422.1:c.754C>A | XP_011536724.1:p.Arg252= |