HGVS | Genome Assembly |
---|---|
NC_000019.10:g.55151904A>G , CM000681.2:g.55151904A>G | GRCh38 |
NC_000019.9:g.55663272A>G , CM000681.1:g.55663272A>G | GRCh37 |
NC_000019.8:g.60355084A>G | NCBI36 |
NG_007866.2:g.10829T>C , LRG_432:g.10829T>C | |
NG_011829.2:g.2335T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000344887.10:c.563T>C MANE Select | ENSP00000341838.5:p.Val188Ala | |
ENST00000665070.1:c.596T>C | ENSP00000499482.1:p.Val199Ala | |
ENST00000344887.9:c.563T>C | ENSP00000341838.5:p.Val188Ala | |
ENST00000585806.5:n.562T>C | ||
ENST00000588882.1:c.488T>C | ENSP00000466729.1:p.Val163Ala | |
ENST00000589864.1:n.391T>C | ||
NM_000363.4:c.563T>C , LRG_432t1:c.563T>C | NP_000354.4:p.Val188Ala | |
NM_000363.5:c.563T>C MANE Select | NP_000354.4:p.Val188Ala |