Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94781826C>T , CM000672.2:g.94781826C>T | GRCh38 |
| NC_000010.10:g.96541583C>T , CM000672.1:g.96541583C>T | GRCh37 |
| NC_000010.9:g.96531573C>T | NCBI36 |
| NG_008384.2:g.24121C>T | |
| NG_008384.3:g.24146C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371321.9:c.648C>T MANE Select | ENSP00000360372.3:p.Cys216= | |
| ENST00000645461.1:n.1701C>T | ||
| ENST00000371321.7:c.648C>T | ENSP00000360372.3:p.Cys216= | |
| ENST00000464755.1:c.1411C>T | ENSP00000483243.1:n.1411C>T | |
| NM_000769.2:c.648C>T | NP_000760.1:p.Cys216= | |
| NM_000769.4:c.648C>T MANE Select | NP_000760.1:p.Cys216= |