Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102852902C= , CM000674.2:g.102852902C= | GRCh38 |
| NC_000012.11:g.103246680C= , CM000674.1:g.103246680C= | GRCh37 |
| NC_000012.10:g.101770810C= | NCBI36 |
| NG_008690.1:g.69701G= | |
| NG_008690.2:g.110509G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.755G= MANE Select | ENSP00000448059.1:p.Arg252= | |
| ENST00000307000.7:c.740G= | ENSP00000303500.2:p.Arg247= | |
| ENST00000549247.6:n.514G= | ||
| ENST00000553106.5:c.755G= | ENSP00000448059.1:p.Arg252= | |
| NM_000277.1:c.755G= | NP_000268.1:p.Arg252= | |
| XM_011538422.1:c.755G= | XP_011536724.1:p.Arg252= | |
| NM_000277.2:c.755G= | NP_000268.1:p.Arg252= | |
| NM_001354304.1:c.755G= | NP_001341233.1:p.Arg252= | |
| NM_000277.3:c.755G= MANE Select | NP_000268.1:p.Arg252= | |
| NM_001354304.2:c.755G= | NP_001341233.1:p.Arg252= |