HGVS | Genome Assembly |
---|---|
NC_000008.11:g.117835518A>T , CM000670.2:g.117835518A>T | GRCh38 |
NC_000008.10:g.118847757A>T , CM000670.1:g.118847757A>T | GRCh37 |
NC_000008.9:g.118916938A>T | NCBI36 |
NG_007455.2:g.281302T>A , LRG_493:g.281302T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000684189.1:n.557T>A | ||
ENST00000378204.7:c.1090T>A MANE Select | ENSP00000367446.3:p.Trp364Arg | |
ENST00000436216.2:c.458T>A | ||
ENST00000378204.6:c.1090T>A | ENSP00000367446.2:p.Trp364Arg | |
ENST00000436216.1:c.458T>A | ||
ENST00000437196.1:c.107T>A | ENSP00000407299.1:p.Met36Lys | |
NM_000127.2:c.1090T>A , LRG_493t1:c.1090T>A | NP_000118.2:p.Trp364Arg | |
NM_000127.3:c.1090T>A MANE Select | NP_000118.2:p.Trp364Arg |