HGVS | Genome Assembly |
---|---|
NC_000015.10:g.39581158C>A , CM000677.2:g.39581158C>A | GRCh38 |
NC_000015.9:g.39873359C>A , CM000677.1:g.39873359C>A | GRCh37 |
NC_000015.8:g.37660651C>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000260356.6:c.-100C>A MANE Select | ENSP00000260356.5:n.-100C>A | |
ENST00000260356.5:c.-100C>A | ENSP00000260356.5:n.-100C>A | |
ENST00000397591.2:c.-221C>A | ENSP00000380720.2:n.-221C>A | |
NM_003246.2:c.-100C>A | NP_003237.2:n.-100C>A | |
NM_003246.3:c.-100C>A | NP_003237.2:n.-100C>A | |
XM_011521970.1:c.-221C>A | XP_011520272.1:n.-221C>A | |
XM_011521971.1:c.-100C>A | XP_011520273.1:n.-100C>A | |
XR_931897.1:n.76C>A | ||
XM_011521971.2:c.-100C>A | XP_011520273.1:n.-100C>A | |
NM_003246.4:c.-100C>A MANE Select | NP_003237.2:n.-100C>A |