Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.121329715G= , CM000669.2:g.121329715G= | GRCh38 |
| NC_000007.13:g.120969769G= , CM000669.1:g.120969769G= | GRCh37 |
| NC_000007.12:g.120757005G= | NCBI36 |
| NG_029242.1:g.9349G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_057168.2:c.244G= MANE Select | NP_476509.1:p.Gly82= |
| ENST00000222462.3:c.244G= MANE Select | ENSP00000222462.2:p.Gly82= |
| NM_016087.2:c.214G= | NP_057171.2:p.Gly72= |
| NM_057168.1:c.244G= | NP_476509.1:p.Gly82= |
| ENST00000222462.2:c.244G= | ENSP00000222462.2:p.Gly82= |
| ENST00000361301.6:c.214G= | ENSP00000355065.2:p.Gly72= |