HGVS | Genome Assembly |
---|---|
NC_000013.11:g.30745981T>C , CM000675.2:g.30745981T>C | GRCh38 |
NC_000013.10:g.31320118T>C , CM000675.1:g.31320118T>C | GRCh37 |
NC_000013.9:g.30218118T>C | NCBI36 |
NG_011963.2:g.37504T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000380490.5:c.170+1822T>C MANE Select | ENSP00000369858.3:n.170+1822T>C | |
ENST00000380490.4:c.170+1822T>C | ENSP00000369858.3:n.170+1822T>C | |
ENST00000617770.4:c.341+1822T>C | ENSP00000479870.1:n.341+1822T>C | |
NM_001204406.1:c.341+1822T>C | NP_001191335.1:n.341+1822T>C | |
NM_001629.3:c.170+1822T>C | NP_001620.2:n.170+1822T>C | |
XM_011535024.1:c.*845T>C | XP_011533326.1:n.*845T>C | |
XM_011535025.1:c.-70-644T>C | XP_011533327.1:n.-70-644T>C | |
NM_001204406.2:c.341+1822T>C | NP_001191335.1:n.341+1822T>C | |
NM_001629.4:c.170+1822T>C MANE Select | NP_001620.2:n.170+1822T>C |