HGVS | Genome Assembly |
---|---|
NC_000011.10:g.67584727C>G , CM000673.2:g.67584727C>G | GRCh38 |
NC_000011.9:g.67352198C>G , CM000673.1:g.67352198C>G | GRCh37 |
NC_000011.8:g.67108774C>G | NCBI36 |
NG_012075.1:g.6133C>G , LRG_723:g.6133C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000398603.6:c.187C>G | ENSP00000381604.1:p.Leu63Val | |
ENST00000398606.10:c.187C>G MANE Select | ENSP00000381607.3:p.Leu63Val | |
ENST00000646888.1:c.80C>G | ENSP00000494477.1:p.Pro27Arg | |
ENST00000398603.5:c.187C>G | ENSP00000381604.1:p.Leu63Val | |
ENST00000398606.7:c.187C>G | ENSP00000381607.3:p.Leu63Val | |
ENST00000489040.1:n.186C>G | ||
ENST00000494593.1:n.617C>G | ||
ENST00000498765.5:c.150C>G | ||
NM_000852.3:c.187C>G , LRG_723t1:c.187C>G | NP_000843.1:p.Leu63Val | |
NM_000852.4:c.187C>G MANE Select | NP_000843.1:p.Leu63Val |