Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.138946038C= , CM000665.2:g.138946038C= | GRCh38 |
| NC_000003.11:g.138664880C= , CM000665.1:g.138664880C= | GRCh37 |
| NC_000003.10:g.140147570C= | NCBI36 |
| NG_012454.1:g.6103G= | |
| NG_029796.1:g.3805C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648323.1:c.685G= MANE Select | ENSP00000497217.1:p.Ala229= | |
| ENST00000330315.3:c.685G= | ENSP00000333188.3:p.Ala229= | |
| NM_023067.3:c.685G= | NP_075555.1:p.Ala229= | |
| NM_023067.4:c.685G= MANE Select | NP_075555.1:p.Ala229= |