Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17022681A>C , CM000663.2:g.17022681A>C | GRCh38 |
| NC_000001.10:g.17349176A>C , CM000663.1:g.17349176A>C | GRCh37 |
| NC_000001.9:g.17221763A>C | NCBI36 |
| NG_012340.1:g.36490T>G , LRG_316:g.36490T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463045.3:c.521T>G | ENSP00000481376.2:p.Leu174Arg | |
| ENST00000491274.6:c.650T>G | ENSP00000480482.2:p.Leu217Arg | |
| ENST00000375499.8:c.692T>G MANE Select | ENSP00000364649.3:p.Leu231Arg | |
| ENST00000375499.7:c.692T>G | ENSP00000364649.3:p.Leu231Arg | |
| ENST00000475049.5:n.117T>G | ||
| ENST00000485092.5:n.356T>G | ||
| ENST00000485515.5:n.626T>G | ||
| NM_003000.2:c.692T>G , LRG_316t1:c.692T>G | NP_002991.2:p.Leu231Arg | |
| NM_003000.3:c.692T>G MANE Select | NP_002991.2:p.Leu231Arg |