Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17044879C= , CM000663.2:g.17044879C= | GRCh38 |
| NC_000001.10:g.17371374C= , CM000663.1:g.17371374C= | GRCh37 |
| NC_000001.9:g.17243961C= | NCBI36 |
| NG_012340.1:g.14292G= , LRG_316:g.14292G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463045.3:c.-90G= | ENSP00000481376.2:n.-90G= | |
| ENST00000491274.6:c.40G= | ENSP00000480482.2:p.Gly14= | |
| ENST00000375499.8:c.82G= MANE Select | ENSP00000364649.3:p.Gly28= | |
| ENST00000375499.7:c.82G= | ENSP00000364649.3:p.Gly28= | |
| ENST00000463045.2:c.-90G= | ENSP00000481376.1:n.-90G= | |
| ENST00000466613.2:n.94G= | ||
| ENST00000485515.5:n.70G= | ||
| ENST00000491274.5:c.40G= | ENSP00000480482.1:p.Gly14= | |
| NM_003000.2:c.82G= , LRG_316t1:c.82G= | NP_002991.2:p.Gly28= | |
| NM_003000.3:c.82G= MANE Select | NP_002991.2:p.Gly28= |