Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.138945629C= , CM000665.2:g.138945629C= | GRCh38 |
| NC_000003.11:g.138664471C= , CM000665.1:g.138664471C= | GRCh37 |
| NC_000003.10:g.140147161C= | NCBI36 |
| NG_012454.1:g.6512G= | |
| NG_029796.1:g.3396C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648323.1:c.1094G= MANE Select | ENSP00000497217.1:p.Ser365= | |
| ENST00000330315.3:c.1094G= | ENSP00000333188.3:p.Ser365= | |
| NM_023067.3:c.1094G= | NP_075555.1:p.Ser365= | |
| NM_023067.4:c.1094G= MANE Select | NP_075555.1:p.Ser365= |