HGVS | Genome Assembly |
---|---|
NC_000011.10:g.67584728T>G , CM000673.2:g.67584728T>G | GRCh38 |
NC_000011.9:g.67352199T>G , CM000673.1:g.67352199T>G | GRCh37 |
NC_000011.8:g.67108775T>G | NCBI36 |
NG_012075.1:g.6134T>G , LRG_723:g.6134T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000398603.6:c.188T>G | ENSP00000381604.1:p.Leu63Arg | |
ENST00000398606.10:c.188T>G MANE Select | ENSP00000381607.3:p.Leu63Arg | |
ENST00000646888.1:c.81T>G | ENSP00000494477.1:p.Pro27= | |
ENST00000398603.5:c.188T>G | ENSP00000381604.1:p.Leu63Arg | |
ENST00000398606.7:c.188T>G | ENSP00000381607.3:p.Leu63Arg | |
ENST00000489040.1:n.187T>G | ||
ENST00000494593.1:n.618T>G | ||
ENST00000498765.5:c.151T>G | ||
NM_000852.3:c.188T>G , LRG_723t1:c.188T>G | NP_000843.1:p.Leu63Arg | |
NM_000852.4:c.188T>G MANE Select | NP_000843.1:p.Leu63Arg |