HGVS | Genome Assembly |
---|---|
NC_000015.10:g.39581180C>T , CM000677.2:g.39581180C>T | GRCh38 |
NC_000015.9:g.39873381C>T , CM000677.1:g.39873381C>T | GRCh37 |
NC_000015.8:g.37660673C>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000260356.6:c.-78C>T MANE Select | ENSP00000260356.5:n.-78C>T | |
ENST00000260356.5:c.-78C>T | ENSP00000260356.5:n.-78C>T | |
ENST00000397591.2:c.-199C>T | ENSP00000380720.2:n.-199C>T | |
NM_003246.2:c.-78C>T | NP_003237.2:n.-78C>T | |
NM_003246.3:c.-78C>T | NP_003237.2:n.-78C>T | |
XM_011521970.1:c.-199C>T | XP_011520272.1:n.-199C>T | |
XM_011521971.1:c.-78C>T | XP_011520273.1:n.-78C>T | |
XR_931897.1:n.98C>T | ||
XM_011521971.2:c.-78C>T | XP_011520273.1:n.-78C>T | |
NM_003246.4:c.-78C>T MANE Select | NP_003237.2:n.-78C>T |