Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.856008C= , CM000681.2:g.856008C= | GRCh38 |
| NC_000019.9:g.856008C= , CM000681.1:g.856008C= | GRCh37 |
| NC_000019.8:g.807008C= | NCBI36 |
| NG_007274.1:g.1344C= , LRG_46:g.1344C= | |
| NG_009627.1:g.8718C= , LRG_57:g.8718C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263621.2:c.648C= MANE Select | ENSP00000263621.1:p.Ala216= | |
| ENST00000263621.1:c.648C= | ENSP00000263621.1:p.Ala216= | |
| ENST00000590230.5:c.648C= | ENSP00000466090.1:p.Ala216= | |
| NM_001972.2:c.648C= , LRG_57t1:c.648C= | NP_001963.1:p.Ala216= | |
| XM_011527775.1:c.648C= | XP_011526077.1:p.Ala216= | |
| XM_011527776.1:c.648C= | XP_011526078.1:p.Ala216= | |
| NM_001972.3:c.648C= | NP_001963.1:p.Ala216= | |
| NM_001972.4:c.648C= MANE Select | NP_001963.1:p.Ala216= |