Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.138946604C= , CM000665.2:g.138946604C= | GRCh38 |
| NC_000003.11:g.138665446C= , CM000665.1:g.138665446C= | GRCh37 |
| NC_000003.10:g.140148136C= | NCBI36 |
| NG_012454.1:g.5537G= | |
| NG_029796.1:g.4371C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648323.1:c.119G= MANE Select | ENSP00000497217.1:p.Gly40= | |
| ENST00000330315.3:c.119G= | ENSP00000333188.3:p.Gly40= | |
| NM_023067.3:c.119G= | NP_075555.1:p.Gly40= | |
| NM_023067.4:c.119G= MANE Select | NP_075555.1:p.Gly40= |