HGVS | Genome Assembly |
---|---|
NC_000006.12:g.3154850C>G , CM000668.2:g.3154850C>G | GRCh38 |
NC_000006.11:g.3155084C>G , CM000668.1:g.3155084C>G | GRCh37 |
NC_000006.10:g.3100083C>G | NCBI36 |
NG_042223.1:g.7700G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000333628.4:c.351G>C MANE Select | ENSP00000369703.2:p.Leu117= | |
ENST00000679400.1:n.407G>C | ||
ENST00000679907.1:n.739G>C | ||
ENST00000680036.1:n.1133G>C | ||
ENST00000680967.1:n.1441G>C | ||
ENST00000333628.3:c.351G>C | ENSP00000369703.2:p.Leu117= | |
ENST00000489942.1:n.546G>C | ||
NM_001069.2:c.351G>C | NP_001060.1:p.Leu117= | |
NM_001310315.1:c.96G>C | NP_001297244.1:p.Leu32= | |
NM_001069.3:c.351G>C MANE Select | NP_001060.1:p.Leu117= | |
NM_001310315.2:c.96G>C | NP_001297244.1:p.Leu32= |