HGVS | Genome Assembly |
---|---|
NC_000011.10:g.67586555T>G , CM000673.2:g.67586555T>G | GRCh38 |
NC_000011.9:g.67354026T>G , CM000673.1:g.67354026T>G | GRCh37 |
NC_000011.8:g.67110602T>G | NCBI36 |
NG_012075.1:g.7961T>G , LRG_723:g.7961T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000398603.6:c.503T>G | ENSP00000381604.1:p.Ile168Ser | |
ENST00000398606.10:c.611T>G MANE Select | ENSP00000381607.3:p.Ile204Ser | |
ENST00000398603.5:c.503T>G | ENSP00000381604.1:p.Ile168Ser | |
ENST00000398606.7:c.611T>G | ENSP00000381607.3:p.Ile204Ser | |
ENST00000467591.1:n.722T>G | ||
ENST00000494593.1:n.1583T>G | ||
ENST00000498765.5:c.674T>G | ||
NM_000852.3:c.611T>G , LRG_723t1:c.611T>G | NP_000843.1:p.Ile204Ser | |
NM_000852.4:c.611T>G MANE Select | NP_000843.1:p.Ile204Ser |