Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154571469C= , CM000663.2:g.154571469C= | GRCh38 |
| NC_000001.10:g.154543945C= , CM000663.1:g.154543945C= | GRCh37 |
| NC_000001.9:g.152810569C= | NCBI36 |
| NG_008027.1:g.8689C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368476.4:c.646C= MANE Select | ENSP00000357461.3:p.Pro216= | |
| ENST00000636034.1:c.646C= | ENSP00000489703.1:p.Pro216= | |
| ENST00000637900.1:c.652C= | ENSP00000490474.1:p.Pro218= | |
| ENST00000368476.3:c.646C= | ENSP00000357461.3:p.Pro216= | |
| NM_000748.2:c.646C= | NP_000739.1:p.Pro216= | |
| XM_017000180.2:c.136C= | XP_016855669.1:p.Pro46= | |
| XR_001736952.2:n.898C= | ||
| NM_000748.3:c.646C= MANE Select | NP_000739.1:p.Pro216= |