Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17018916T>C , CM000663.2:g.17018916T>C | GRCh38 |
| NC_000001.10:g.17345411T>C , CM000663.1:g.17345411T>C | GRCh37 |
| NC_000001.9:g.17217998T>C | NCBI36 |
| NG_012340.1:g.40255A>G , LRG_316:g.40255A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463045.3:c.637A>G | ENSP00000481376.2:p.Met213Val | |
| ENST00000491274.6:c.766A>G | ENSP00000480482.2:p.Met256Val | |
| ENST00000375499.8:c.808A>G MANE Select | ENSP00000364649.3:p.Met270Val | |
| ENST00000375499.7:c.808A>G | ENSP00000364649.3:p.Met270Val | |
| ENST00000475049.5:n.233A>G | ||
| ENST00000485092.5:n.472A>G | ||
| NM_003000.2:c.808A>G , LRG_316t1:c.808A>G | NP_002991.2:p.Met270Val | |
| NM_003000.3:c.808A>G MANE Select | NP_002991.2:p.Met270Val |