HGVS | Genome Assembly |
---|---|
NC_000001.11:g.102876792A>T , CM000663.2:g.102876792A>T | GRCh38 |
NC_000001.10:g.103342348A>T , CM000663.1:g.103342348A>T | GRCh37 |
NC_000001.9:g.103114936A>T | NCBI36 |
NG_008033.1:g.236705T>A | |
NG_008033.2:g.236705T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000370096.9:c.*1227T>A MANE Select | ENSP00000359114.3:n.*1227T>A | |
ENST00000353414.8:c.*1227T>A | ENSP00000302551.6:n.*1227T>A | |
ENST00000358392.6:c.*1227T>A | ENSP00000351163.2:n.*1227T>A | |
ENST00000370096.7:c.*1227T>A | ENSP00000359114.3:n.*1227T>A | |
NM_001190709.1:c.*1227T>A | NP_001177638.1:n.*1227T>A | |
NM_001854.3:c.*1227T>A | NP_001845.3:n.*1227T>A | |
NM_080629.2:c.*1227T>A | NP_542196.2:n.*1227T>A | |
NM_080630.3:c.*1227T>A | NP_542197.3:n.*1227T>A | |
XM_011540720.1:c.*1227T>A | XP_011539022.1:n.*1227T>A | |
XM_011540721.1:c.*1227T>A | XP_011539023.1:n.*1227T>A | |
NR_134980.1:n.6982T>A | ||
XM_017000334.1:c.*1227T>A | XP_016855823.1:n.*1227T>A | |
NM_001854.4:c.*1227T>A MANE Select | NP_001845.3:n.*1227T>A | |
NM_080630.4:c.*1227T>A | NP_542197.3:n.*1227T>A | |
NR_134980.2:n.7008T>A | ||
NM_001190709.2:c.*1227T>A | NP_001177638.1:n.*1227T>A | |
NM_080629.3:c.*1227T>A | NP_542196.2:n.*1227T>A |