Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17018932T>C , CM000663.2:g.17018932T>C | GRCh38 |
| NC_000001.10:g.17345427T>C , CM000663.1:g.17345427T>C | GRCh37 |
| NC_000001.9:g.17218014T>C | NCBI36 |
| NG_012340.1:g.40239A>G , LRG_316:g.40239A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463045.3:c.621A>G | ENSP00000481376.2:p.Ala207= | |
| ENST00000491274.6:c.750A>G | ENSP00000480482.2:p.Ala250= | |
| ENST00000375499.8:c.792A>G MANE Select | ENSP00000364649.3:p.Ala264= | |
| ENST00000375499.7:c.792A>G | ENSP00000364649.3:p.Ala264= | |
| ENST00000475049.5:n.217A>G | ||
| ENST00000485092.5:n.456A>G | ||
| NM_003000.2:c.792A>G , LRG_316t1:c.792A>G | NP_002991.2:p.Ala264= | |
| NM_003000.3:c.792A>G MANE Select | NP_002991.2:p.Ala264= |