Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17044882G= , CM000663.2:g.17044882G= | GRCh38 |
| NC_000001.10:g.17371377G= , CM000663.1:g.17371377G= | GRCh37 |
| NC_000001.9:g.17243964G= | NCBI36 |
| NG_012340.1:g.14289C= , LRG_316:g.14289C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003000.3:c.79C= MANE Select | NP_002991.2:p.Arg27= |
| ENST00000375499.8:c.79C= MANE Select | ENSP00000364649.3:p.Arg27= |
| NM_003000.2:c.79C= , LRG_316t1:c.79C= | NP_002991.2:p.Arg27= |
| ENST00000375499.7:c.79C= | ENSP00000364649.3:p.Arg27= |
| ENST00000463045.2:c.-93C= | ENSP00000481376.1:n.-93C= |
| ENST00000463045.3:c.-93C= | ENSP00000481376.2:n.-93C= |
| ENST00000466613.2:n.91C= | |
| ENST00000485515.5:n.67C= | |
| ENST00000491274.5:c.37C= | ENSP00000480482.1:p.Arg13= |
| ENST00000491274.6:c.37C= | ENSP00000480482.2:p.Arg13= |