Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.138946076G= , CM000665.2:g.138946076G= | GRCh38 |
| NC_000003.11:g.138664918G= , CM000665.1:g.138664918G= | GRCh37 |
| NC_000003.10:g.140147608G= | NCBI36 |
| NG_012454.1:g.6065C= | |
| NG_029796.1:g.3843G= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000648323.1:c.647C= MANE Select | ENSP00000497217.1:p.Ala216= | |
| ENST00000330315.3:c.647C= | ENSP00000333188.3:p.Ala216= | |
| NM_023067.3:c.647C= | NP_075555.1:p.Ala216= | |
| NM_023067.4:c.647C= MANE Select | NP_075555.1:p.Ala216= |