HGVS | Genome Assembly |
---|---|
NC_000017.11:g.30249018C>A , CM000679.2:g.30249018C>A | GRCh38 |
NC_000017.10:g.28576036C>A , CM000679.1:g.28576036C>A | GRCh37 |
NC_000017.9:g.25600162C>A | NCBI36 |
NG_011440.1:g.48039G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261714.11:c.1367G>T MANE Select | ENSP00000261714.6:p.Ter456Leu | |
ENST00000261714.10:c.1367G>T | ENSP00000261714.6:p.Ter456Leu | |
ENST00000578090.5:c.*1041G>T | ENSP00000462353.1:n.*1041G>T | |
ENST00000578795.1:n.1266G>T | ||
NM_000386.3:c.1367G>T | NP_000377.1:p.Ter456Leu | |
XR_934653.1:n.701-769C>A | ||
XR_934655.1:n.701-3056C>A | ||
NM_000386.4:c.1367G>T MANE Select | NP_000377.1:p.Ter456Leu |