HGVS | Genome Assembly |
---|---|
NC_000006.12:g.3154696C>G , CM000668.2:g.3154696C>G | GRCh38 |
NC_000006.11:g.3154930C>G , CM000668.1:g.3154930C>G | GRCh37 |
NC_000006.10:g.3099929C>G | NCBI36 |
NG_042223.1:g.7854G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000333628.4:c.505G>C MANE Select | ENSP00000369703.2:p.Val169Leu | |
ENST00000679400.1:n.561G>C | ||
ENST00000679907.1:n.893G>C | ||
ENST00000680036.1:n.1287G>C | ||
ENST00000680967.1:n.1595G>C | ||
ENST00000333628.3:c.505G>C | ENSP00000369703.2:p.Val169Leu | |
ENST00000489942.1:n.700G>C | ||
NM_001069.2:c.505G>C | NP_001060.1:p.Val169Leu | |
NM_001310315.1:c.250G>C | NP_001297244.1:p.Val84Leu | |
NM_001069.3:c.505G>C MANE Select | NP_001060.1:p.Val169Leu | |
NM_001310315.2:c.250G>C | NP_001297244.1:p.Val84Leu |