Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.64743300G>C , CM000674.2:g.64743300G>C | GRCh38 |
| NC_000012.11:g.65137080G>C , CM000674.1:g.65137080G>C | GRCh37 |
| NC_000012.10:g.63423347G>C | NCBI36 |
| NG_008955.1:g.21147C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002076.4:c.633C>G MANE Select | NP_002067.1:p.Val211= |
| ENST00000258145.8:c.633C>G MANE Select | ENSP00000258145.3:p.Val211= |
| NM_002076.3:c.633C>G | NP_002067.1:p.Val211= |
| ENST00000258145.7:c.633C>G | ENSP00000258145.3:p.Val211= |
| ENST00000418919.6:c.465C>G | ENSP00000413130.2:p.Val155= |
| ENST00000540196.5:c.91C>G | |
| ENST00000541781.5:n.688C>G | |
| ENST00000542058.5:c.573C>G | ENSP00000444819.1:p.Val191= |
| ENST00000543646.5:c.729C>G | ENSP00000438497.1:p.Val243= |
| ENST00000545273.1:c.405C>G | ENSP00000445055.1:p.Val135= |