HGVS | Genome Assembly |
---|---|
NC_000010.11:g.47679G>T , CM000672.2:g.47679G>T | GRCh38 |
NC_000010.10:g.93619G>T , CM000672.1:g.93619G>T | GRCh37 |
NC_000010.9:g.83619G>T | NCBI36 |
NG_046777.1:g.33777C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000568584.6:c.713C>A MANE Select | ENSP00000456206.2:p.Thr238Lys | |
ENST00000561967.1:c.*376C>A | ENSP00000454878.1:n.*376C>A | |
ENST00000562809.1:c.*376C>A | ENSP00000456899.1:n.*376C>A | |
ENST00000564130.2:c.611C>A | ENSP00000457610.1:p.Thr204Lys | |
ENST00000567466.1:c.*557C>A | ENSP00000454914.1:n.*557C>A | |
ENST00000568584.5:c.713C>A | ENSP00000456206.1:p.Thr238Lys | |
ENST00000568866.5:c.602C>A | ENSP00000457062.1:p.Thr201Lys | |
NM_177987.2:c.713C>A | NP_817124.1:p.Thr238Lys | |
XM_011519458.1:c.497C>A | XP_011517760.1:p.Thr166Lys | |
XM_011519459.1:c.497C>A | XP_011517761.1:p.Thr166Lys | |
XM_011519460.1:c.254C>A | XP_011517762.1:p.Thr85Lys | |
XM_011519459.3:c.497C>A | XP_011517761.1:p.Thr166Lys | |
XM_011519460.2:c.254C>A | XP_011517762.1:p.Thr85Lys | |
XM_017016192.2:c.377C>A | XP_016871681.1:p.Thr126Lys | |
XM_017016193.2:c.377C>A | XP_016871682.1:p.Thr126Lys | |
NM_177987.3:c.713C>A MANE Select | NP_817124.1:p.Thr238Lys | |
NM_001389618.1:c.497C>A | NP_001376547.1:p.Thr166Lys | |
NM_001389619.1:c.497C>A | NP_001376548.1:p.Thr166Lys |