HGVS | Genome Assembly |
---|---|
NC_000015.10:g.39581212C>T , CM000677.2:g.39581212C>T | GRCh38 |
NC_000015.9:g.39873413C>T , CM000677.1:g.39873413C>T | GRCh37 |
NC_000015.8:g.37660705C>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000260356.6:c.-46C>T MANE Select | ENSP00000260356.5:n.-46C>T | |
ENST00000260356.5:c.-46C>T | ENSP00000260356.5:n.-46C>T | |
ENST00000397591.2:c.-167C>T | ENSP00000380720.2:n.-167C>T | |
NM_003246.2:c.-46C>T | NP_003237.2:n.-46C>T | |
NM_003246.3:c.-46C>T | NP_003237.2:n.-46C>T | |
XM_011521970.1:c.-167C>T | XP_011520272.1:n.-167C>T | |
XM_011521971.1:c.-46C>T | XP_011520273.1:n.-46C>T | |
XR_931897.1:n.130C>T | ||
XM_011521971.2:c.-46C>T | XP_011520273.1:n.-46C>T | |
NM_003246.4:c.-46C>T MANE Select | NP_003237.2:n.-46C>T |