Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17022718T>G , CM000663.2:g.17022718T>G | GRCh38 |
| NC_000001.10:g.17349213T>G , CM000663.1:g.17349213T>G | GRCh37 |
| NC_000001.9:g.17221800T>G | NCBI36 |
| NG_012340.1:g.36453A>C , LRG_316:g.36453A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463045.3:c.484A>C | ENSP00000481376.2:p.Met162Leu | |
| ENST00000491274.6:c.613A>C | ENSP00000480482.2:p.Met205Leu | |
| ENST00000375499.8:c.655A>C MANE Select | ENSP00000364649.3:p.Met219Leu | |
| ENST00000375499.7:c.655A>C | ENSP00000364649.3:p.Met219Leu | |
| ENST00000475049.5:n.80A>C | ||
| ENST00000485092.5:n.319A>C | ||
| ENST00000485515.5:n.589A>C | ||
| NM_003000.2:c.655A>C , LRG_316t1:c.655A>C | NP_002991.2:p.Met219Leu | |
| NM_003000.3:c.655A>C MANE Select | NP_002991.2:p.Met219Leu |