HGVS | Genome Assembly |
---|---|
NC_000006.12:g.32443362T>G , CM000668.2:g.32443362T>G | GRCh38 |
NC_000006.11:g.32411139T>G , CM000668.1:g.32411139T>G | GRCh37 |
NC_000006.10:g.32519117T>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000395388.7:c.506T>G MANE Select | ENSP00000378786.2:p.Leu169Arg | |
ENST00000374982.5:c.431T>G | ENSP00000364121.5:p.Leu144Arg | |
ENST00000395388.6:c.506T>G | ENSP00000378786.2:p.Leu169Arg | |
NM_019111.4:c.506T>G | NP_061984.2:p.Leu169Arg | |
NM_019111.5:c.506T>G MANE Select | NP_061984.2:p.Leu169Arg |