Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.142957853C= , CM000669.2:g.142957853C= | GRCh38 |
| NC_000007.13:g.142654940C= , CM000669.1:g.142654940C= | GRCh37 |
| NC_000007.12:g.142365062C= | NCBI36 |
| NG_007492.1:g.9564G= | |
| NG_007492.2:g.9564G= | |
| NG_007492.3:g.9564G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355265.7:c.646G= MANE Select | ENSP00000347409.2:p.Ala216= | |
| ENST00000467543.6:c.*498G= | ENSP00000420011.2:n.*498G= | |
| ENST00000355265.6:c.646G= | ENSP00000347409.2:p.Ala216= | |
| ENST00000467543.5:c.589G= | ENSP00000420011.1:p.Ala197= | |
| ENST00000476829.5:c.525+451G= | ENSP00000419889.1:n.525+451G= | |
| ENST00000479768.6:n.764G= | ||
| ENST00000494148.1:n.245G= | ||
| NM_000420.2:c.646G= | NP_000411.1:p.Ala216= | |
| XM_005249993.2:c.682G= | XP_005250050.1:p.Ala228= | |
| NM_000420.3:c.646G= MANE Select | NP_000411.1:p.Ala216= |