Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.64743225C>A , CM000674.2:g.64743225C>A | GRCh38 |
| NC_000012.11:g.65137005C>A , CM000674.1:g.65137005C>A | GRCh37 |
| NC_000012.10:g.63423272C>A | NCBI36 |
| NG_008955.1:g.21222G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002076.4:c.708G>T MANE Select | NP_002067.1:p.Ser236= |
| ENST00000258145.8:c.708G>T MANE Select | ENSP00000258145.3:p.Ser236= |
| NM_002076.3:c.708G>T | NP_002067.1:p.Ser236= |
| ENST00000258145.7:c.708G>T | ENSP00000258145.3:p.Ser236= |
| ENST00000418919.6:c.540G>T | ENSP00000413130.2:p.Ser180= |
| ENST00000540196.5:c.166G>T | |
| ENST00000541781.5:n.763G>T | |
| ENST00000542058.5:c.648G>T | ENSP00000444819.1:p.Ser216= |
| ENST00000543646.5:c.804G>T | ENSP00000438497.1:p.Ser268= |
| ENST00000545273.1:c.480G>T | ENSP00000445055.1:p.Ser160= |