HGVS | Genome Assembly |
---|---|
NC_000001.11:g.17024067A>C , CM000663.2:g.17024067A>C | GRCh38 |
NC_000001.10:g.17350562A>C , CM000663.1:g.17350562A>C | GRCh37 |
NC_000001.9:g.17223149A>C | NCBI36 |
NG_012340.1:g.35104T>G , LRG_316:g.35104T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000463045.3:c.377T>G | ENSP00000481376.2:p.Leu126Arg | |
ENST00000491274.6:c.506T>G | ENSP00000480482.2:p.Leu169Arg | |
ENST00000375499.8:c.548T>G MANE Select | ENSP00000364649.3:p.Leu183Arg | |
ENST00000375499.7:c.548T>G | ENSP00000364649.3:p.Leu183Arg | |
ENST00000485515.5:n.482T>G | ||
ENST00000491274.5:c.506T>G | ENSP00000480482.1:p.Leu169Arg | |
NM_003000.2:c.548T>G , LRG_316t1:c.548T>G | NP_002991.2:p.Leu183Arg | |
NM_003000.3:c.548T>G MANE Select | NP_002991.2:p.Leu183Arg |