HGVS | Genome Assembly |
---|---|
NC_000017.11:g.30248878G>T , CM000679.2:g.30248878G>T | GRCh38 |
NC_000017.10:g.28575896G>T , CM000679.1:g.28575896G>T | GRCh37 |
NC_000017.9:g.25600022G>T | NCBI36 |
NG_011440.1:g.48179C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000261714.11:c.*139C>A MANE Select | ENSP00000261714.6:n.*139C>A | |
ENST00000261714.10:c.*139C>A | ENSP00000261714.6:n.*139C>A | |
ENST00000578090.5:c.*1181C>A | ENSP00000462353.1:n.*1181C>A | |
ENST00000578795.1:n.1406C>A | ||
NM_000386.3:c.*139C>A | NP_000377.1:n.*139C>A | |
XR_934653.1:n.701-909G>T | ||
XR_934655.1:n.701-3196G>T | ||
NM_000386.4:c.*139C>A MANE Select | NP_000377.1:n.*139C>A |