HGVS | Genome Assembly |
---|---|
NC_000017.11:g.30249019A>G , CM000679.2:g.30249019A>G | GRCh38 |
NC_000017.10:g.28576037A>G , CM000679.1:g.28576037A>G | GRCh37 |
NC_000017.9:g.25600163A>G | NCBI36 |
NG_011440.1:g.48038T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261714.11:c.1366T>C MANE Select | ENSP00000261714.6:p.Ter456Arg | |
ENST00000261714.10:c.1366T>C | ENSP00000261714.6:p.Ter456Arg | |
ENST00000578090.5:c.*1040T>C | ENSP00000462353.1:n.*1040T>C | |
ENST00000578795.1:n.1265T>C | ||
NM_000386.3:c.1366T>C | NP_000377.1:p.Ter456Arg | |
XR_934653.1:n.701-768A>G | ||
XR_934655.1:n.701-3055A>G | ||
NM_000386.4:c.1366T>C MANE Select | NP_000377.1:p.Ter456Arg |