HGVS | Genome Assembly |
---|---|
NC_000001.11:g.17044882G>T , CM000663.2:g.17044882G>T | GRCh38 |
NC_000001.10:g.17371377G>T , CM000663.1:g.17371377G>T | GRCh37 |
NC_000001.9:g.17243964G>T | NCBI36 |
NG_012340.1:g.14289C>A , LRG_316:g.14289C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000463045.3:c.-93C>A | ENSP00000481376.2:n.-93C>A | |
ENST00000491274.6:c.37C>A | ENSP00000480482.2:p.Arg13= | |
ENST00000375499.8:c.79C>A MANE Select | ENSP00000364649.3:p.Arg27= | |
ENST00000375499.7:c.79C>A | ENSP00000364649.3:p.Arg27= | |
ENST00000463045.2:c.-93C>A | ENSP00000481376.1:n.-93C>A | |
ENST00000466613.2:n.91C>A | ||
ENST00000485515.5:n.67C>A | ||
ENST00000491274.5:c.37C>A | ENSP00000480482.1:p.Arg13= | |
NM_003000.2:c.79C>A , LRG_316t1:c.79C>A | NP_002991.2:p.Arg27= | |
NM_003000.3:c.79C>A MANE Select | NP_002991.2:p.Arg27= |