HGVS | Genome Assembly |
---|---|
NC_000015.10:g.39581139T>A , CM000677.2:g.39581139T>A | GRCh38 |
NC_000015.9:g.39873340T>A , CM000677.1:g.39873340T>A | GRCh37 |
NC_000015.8:g.37660632T>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000260356.6:c.-119T>A MANE Select | ENSP00000260356.5:n.-119T>A | |
ENST00000260356.5:c.-119T>A | ENSP00000260356.5:n.-119T>A | |
ENST00000397591.2:c.-240T>A | ENSP00000380720.2:n.-240T>A | |
NM_003246.2:c.-119T>A | NP_003237.2:n.-119T>A | |
NM_003246.3:c.-119T>A | NP_003237.2:n.-119T>A | |
XM_011521970.1:c.-240T>A | XP_011520272.1:n.-240T>A | |
XM_011521971.1:c.-119T>A | XP_011520273.1:n.-119T>A | |
XR_931897.1:n.57T>A | ||
XM_011521971.2:c.-119T>A | XP_011520273.1:n.-119T>A | |
NM_003246.4:c.-119T>A MANE Select | NP_003237.2:n.-119T>A |