HGVS | Genome Assembly |
---|---|
NC_000001.11:g.17044880T>A , CM000663.2:g.17044880T>A | GRCh38 |
NC_000001.10:g.17371375T>A , CM000663.1:g.17371375T>A | GRCh37 |
NC_000001.9:g.17243962T>A | NCBI36 |
NG_012340.1:g.14291A>T , LRG_316:g.14291A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000463045.3:c.-91A>T | ENSP00000481376.2:n.-91A>T | |
ENST00000491274.6:c.39A>T | ENSP00000480482.2:p.Arg13= | |
ENST00000375499.8:c.81A>T MANE Select | ENSP00000364649.3:p.Arg27= | |
ENST00000375499.7:c.81A>T | ENSP00000364649.3:p.Arg27= | |
ENST00000463045.2:c.-91A>T | ENSP00000481376.1:n.-91A>T | |
ENST00000466613.2:n.93A>T | ||
ENST00000485515.5:n.69A>T | ||
ENST00000491274.5:c.39A>T | ENSP00000480482.1:p.Arg13= | |
NM_003000.2:c.81A>T , LRG_316t1:c.81A>T | NP_002991.2:p.Arg27= | |
NM_003000.3:c.81A>T MANE Select | NP_002991.2:p.Arg27= |