Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.138946075G>C , CM000665.2:g.138946075G>C | GRCh38 |
| NC_000003.11:g.138664917G>C , CM000665.1:g.138664917G>C | GRCh37 |
| NC_000003.10:g.140147607G>C | NCBI36 |
| NG_012454.1:g.6066C>G | |
| NG_029796.1:g.3842G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000648323.1:c.648C>G MANE Select | ENSP00000497217.1:p.Ala216= | |
| ENST00000330315.3:c.648C>G | ENSP00000333188.3:p.Ala216= | |
| NM_023067.3:c.648C>G | NP_075555.1:p.Ala216= | |
| NM_023067.4:c.648C>G MANE Select | NP_075555.1:p.Ala216= |