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