Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17018926G>A , CM000663.2:g.17018926G>A | GRCh38 |
| NC_000001.10:g.17345421G>A , CM000663.1:g.17345421G>A | GRCh37 |
| NC_000001.9:g.17218008G>A | NCBI36 |
| NG_012340.1:g.40245C>T , LRG_316:g.40245C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463045.3:c.627C>T | ENSP00000481376.2:p.Ile209= | |
| ENST00000491274.6:c.756C>T | ENSP00000480482.2:p.Ile252= | |
| ENST00000375499.8:c.798C>T MANE Select | ENSP00000364649.3:p.Ile266= | |
| ENST00000375499.7:c.798C>T | ENSP00000364649.3:p.Ile266= | |
| ENST00000475049.5:n.223C>T | ||
| ENST00000485092.5:n.462C>T | ||
| NM_003000.2:c.798C>T , LRG_316t1:c.798C>T | NP_002991.2:p.Ile266= | |
| NM_003000.3:c.798C>T MANE Select | NP_002991.2:p.Ile266= |