HGVS | Genome Assembly |
---|---|
NC_000011.10:g.67586440C>T , CM000673.2:g.67586440C>T | GRCh38 |
NC_000011.9:g.67353911C>T , CM000673.1:g.67353911C>T | GRCh37 |
NC_000011.8:g.67110487C>T | NCBI36 |
NG_012075.1:g.7846C>T , LRG_723:g.7846C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000398603.6:c.388C>T | ENSP00000381604.1:p.Leu130= | |
ENST00000398606.10:c.496C>T MANE Select | ENSP00000381607.3:p.Leu166= | |
ENST00000646888.1:c.*212C>T | ENSP00000494477.1:n.*212C>T | |
ENST00000398603.5:c.388C>T | ENSP00000381604.1:p.Leu130= | |
ENST00000398606.7:c.496C>T | ENSP00000381607.3:p.Leu166= | |
ENST00000467591.1:n.607C>T | ||
ENST00000494593.1:n.1468C>T | ||
ENST00000498765.5:c.559C>T | ||
NM_000852.3:c.496C>T , LRG_723t1:c.496C>T | NP_000843.1:p.Leu166= | |
NM_000852.4:c.496C>T MANE Select | NP_000843.1:p.Leu166= |