HGVS | Genome Assembly |
---|---|
NC_000007.14:g.147132442T>C , CM000669.2:g.147132442T>C | GRCh38 |
NC_000007.13:g.146829534T>C , CM000669.1:g.146829534T>C | GRCh37 |
NC_000007.12:g.146460467T>C | NCBI36 |
NG_007092.2:g.1021082T>C | |
NG_007092.3:g.1021442T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000361727.8:c.1281T>C MANE Select | ENSP00000354778.3:p.Thr427= | |
ENST00000636561.1:n.1184T>C | ||
ENST00000636870.1:n.1143T>C | ||
ENST00000637150.1:n.1210T>C | ||
ENST00000637694.1:n.1184T>C | ||
ENST00000637825.1:n.764T>C | ||
ENST00000638117.1:n.1184T>C | ||
ENST00000361727.7:c.1281T>C | ENSP00000354778.3:p.Thr427= | |
NM_014141.5:c.1281T>C | NP_054860.1:p.Thr427= | |
XM_017011950.2:c.1281T>C | XP_016867439.1:p.Thr427= | |
NM_014141.6:c.1281T>C MANE Select | NP_054860.1:p.Thr427= |