Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.16148553G>A , CM000663.2:g.16148553G>A | GRCh38 |
| NC_000001.10:g.16475048G>A , CM000663.1:g.16475048G>A | GRCh37 |
| NC_000001.9:g.16347635G>A | NCBI36 |
| NG_021396.1:g.12535C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358432.8:c.648C>T MANE Select | ENSP00000351209.5:p.Ala216= | |
| ENST00000358432.7:c.648C>T | ENSP00000351209.5:p.Ala216= | |
| ENST00000461614.1:n.700C>T | ||
| NM_004431.3:c.648C>T | NP_004422.2:p.Ala216= | |
| NM_001329090.1:c.486C>T | NP_001316019.1:p.Ala162= | |
| NM_004431.4:c.648C>T | NP_004422.2:p.Ala216= | |
| XM_017000537.1:c.648C>T | XP_016856026.1:p.Ala216= | |
| NM_004431.5:c.648C>T MANE Select | NP_004422.2:p.Ala216= | |
| NM_001329090.2:c.486C>T | NP_001316019.1:p.Ala162= |