HGVS | Genome Assembly |
---|---|
NC_000006.12:g.3154785A>G , CM000668.2:g.3154785A>G | GRCh38 |
NC_000006.11:g.3155019A>G , CM000668.1:g.3155019A>G | GRCh37 |
NC_000006.10:g.3100018A>G | NCBI36 |
NG_042223.1:g.7765T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000333628.4:c.416T>C MANE Select | ENSP00000369703.2:p.Leu139Pro | |
ENST00000679400.1:n.472T>C | ||
ENST00000679907.1:n.804T>C | ||
ENST00000680036.1:n.1198T>C | ||
ENST00000680967.1:n.1506T>C | ||
ENST00000333628.3:c.416T>C | ENSP00000369703.2:p.Leu139Pro | |
ENST00000489942.1:n.611T>C | ||
NM_001069.2:c.416T>C | NP_001060.1:p.Leu139Pro | |
NM_001310315.1:c.161T>C | NP_001297244.1:p.Leu54Pro | |
NM_001069.3:c.416T>C MANE Select | NP_001060.1:p.Leu139Pro | |
NM_001310315.2:c.161T>C | NP_001297244.1:p.Leu54Pro |