HGVS | Genome Assembly |
---|---|
NC_000011.10:g.124872932A>T , CM000673.2:g.124872932A>T | GRCh38 |
NC_000011.9:g.124742828A>T , CM000673.1:g.124742828A>T | GRCh37 |
NC_000011.8:g.124248038A>T | NCBI36 |
NG_016214.1:g.12524A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000397801.6:c.1379A>T MANE Select | ENSP00000380903.1:p.Gln460Leu | |
ENST00000397801.5:c.1379A>T | ENSP00000380903.1:p.Gln460Leu | |
ENST00000538940.5:c.1313A>T | ENSP00000441797.1:p.Gln438Leu | |
NM_022370.3:c.1379A>T | NP_071765.2:p.Gln460Leu | |
XM_011542953.1:c.2351A>T | XP_011541255.1:p.Gln784Leu | |
XM_017018122.1:c.1313A>T | XP_016873611.1:p.Gln438Leu | |
NM_022370.4:c.1379A>T MANE Select | NP_071765.2:p.Gln460Leu |