HGVS | Genome Assembly |
---|---|
NC_000007.14:g.128954671C>T , CM000669.2:g.128954671C>T | GRCh38 |
NC_000007.13:g.128594725C>T , CM000669.1:g.128594725C>T | GRCh37 |
NC_000007.12:g.128381961C>T | NCBI36 |
NG_023428.1:g.105503G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000265388.10:c.*746G>A MANE Select | ENSP00000265388.5:n.*746G>A | |
ENST00000265388.9:c.*746G>A | ENSP00000265388.5:n.*746G>A | |
ENST00000627585.2:c.*746G>A | ENSP00000487231.1:n.*746G>A | |
NM_001191028.2:c.*746G>A | NP_001177957.2:n.*746G>A | |
NM_012470.3:c.*746G>A | NP_036602.1:n.*746G>A | |
NR_034053.2:n.4082G>A | ||
XM_011515989.1:c.*746G>A | XP_011514291.1:n.*746G>A | |
NM_001191028.3:c.*746G>A | NP_001177957.2:n.*746G>A | |
NM_001382216.1:c.*746G>A | NP_001369145.1:n.*746G>A | |
NM_001382217.1:c.*746G>A | NP_001369146.1:n.*746G>A | |
NM_001382218.1:c.*696G>A | NP_001369147.1:n.*696G>A | |
NM_001382219.1:c.*746G>A | NP_001369148.1:n.*746G>A | |
NM_001382220.1:c.*746G>A | NP_001369149.1:n.*746G>A | |
NM_001382221.1:c.*746G>A | NP_001369150.1:n.*746G>A | |
NM_001382222.1:c.*746G>A | NP_001369151.1:n.*746G>A | |
NM_001382223.1:c.*696G>A | NP_001369152.1:n.*696G>A | |
NM_012470.4:c.*746G>A MANE Select | NP_036602.1:n.*746G>A | |
NR_034053.3:n.4020G>A | ||
NR_167911.1:n.4107G>A | ||
NR_167912.1:n.3965G>A | ||
NR_167913.1:n.3767G>A | ||
NR_167914.1:n.3927G>A | ||
NR_167915.1:n.4183G>A | ||
NR_167916.1:n.3657G>A | ||
NR_167917.1:n.3690G>A | ||
NR_167918.1:n.4145G>A | ||
NR_167919.1:n.3984G>A | ||
NR_167920.1:n.3943G>A | ||
NR_167921.1:n.4145G>A | ||
NR_167922.1:n.3981G>A | ||
NR_167923.1:n.3782G>A | ||
NR_167924.1:n.4010G>A | ||
NR_167925.1:n.3782G>A | ||
NR_167926.1:n.3793G>A | ||
NR_167927.1:n.4086G>A |