HGVS | Genome Assembly |
---|---|
NC_000011.10:g.67586445C>G , CM000673.2:g.67586445C>G | GRCh38 |
NC_000011.9:g.67353916C>G , CM000673.1:g.67353916C>G | GRCh37 |
NC_000011.8:g.67110492C>G | NCBI36 |
NG_012075.1:g.7851C>G , LRG_723:g.7851C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000398603.6:c.393C>G | ENSP00000381604.1:p.Ala131= | |
ENST00000398606.10:c.501C>G MANE Select | ENSP00000381607.3:p.Ala167= | |
ENST00000646888.1:c.*217C>G | ENSP00000494477.1:n.*217C>G | |
ENST00000398603.5:c.393C>G | ENSP00000381604.1:p.Ala131= | |
ENST00000398606.7:c.501C>G | ENSP00000381607.3:p.Ala167= | |
ENST00000467591.1:n.612C>G | ||
ENST00000494593.1:n.1473C>G | ||
ENST00000498765.5:c.564C>G | ||
NM_000852.3:c.501C>G , LRG_723t1:c.501C>G | NP_000843.1:p.Ala167= | |
NM_000852.4:c.501C>G MANE Select | NP_000843.1:p.Ala167= |