HGVS | Genome Assembly |
---|---|
NC_000011.10:g.67586469C>T , CM000673.2:g.67586469C>T | GRCh38 |
NC_000011.9:g.67353940C>T , CM000673.1:g.67353940C>T | GRCh37 |
NC_000011.8:g.67110516C>T | NCBI36 |
NG_012075.1:g.7875C>T , LRG_723:g.7875C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000398603.6:c.417C>T | ENSP00000381604.1:p.Pro139= | |
ENST00000398606.10:c.525C>T MANE Select | ENSP00000381607.3:p.Pro175= | |
ENST00000646888.1:c.*241C>T | ENSP00000494477.1:n.*241C>T | |
ENST00000398603.5:c.417C>T | ENSP00000381604.1:p.Pro139= | |
ENST00000398606.7:c.525C>T | ENSP00000381607.3:p.Pro175= | |
ENST00000467591.1:n.636C>T | ||
ENST00000494593.1:n.1497C>T | ||
ENST00000498765.5:c.588C>T | ||
NM_000852.3:c.525C>T , LRG_723t1:c.525C>T | NP_000843.1:p.Pro175= | |
NM_000852.4:c.525C>T MANE Select | NP_000843.1:p.Pro175= |