HGVS | Genome Assembly |
---|---|
NC_000004.12:g.118739270C>T , CM000666.2:g.118739270C>T | GRCh38 |
NC_000004.11:g.119660425C>T , CM000666.1:g.119660425C>T | GRCh37 |
NC_000004.10:g.119879873C>T | NCBI36 |
NG_042032.1:g.101902G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000280551.11:c.2256G>A MANE Select | ENSP00000280551.6:p.Thr752= | |
ENST00000280551.10:c.2256G>A | ENSP00000280551.6:p.Thr752= | |
ENST00000419654.6:c.924G>A | ENSP00000388324.2:p.Thr308= | |
ENST00000505134.5:n.1544G>A | ||
ENST00000511481.5:c.1149G>A | ENSP00000425491.1:p.Thr383= | |
ENST00000514561.5:c.*2663G>A | ENSP00000422717.1:n.*2663G>A | |
NM_014822.2:c.2256G>A | NP_055637.2:p.Thr752= | |
XM_005263378.1:c.2259G>A | XP_005263435.1:p.Thr753= | |
XM_005263379.1:c.2259G>A | XP_005263436.1:p.Thr753= | |
XM_011532435.1:c.2259G>A | XP_011530737.1:p.Thr753= | |
XM_011532436.1:c.2259G>A | XP_011530738.1:p.Thr753= | |
XM_011532437.1:c.924G>A | XP_011530739.1:p.Thr308= | |
NM_001318066.1:c.2259G>A | NP_001304995.1:p.Thr753= | |
NM_014822.3:c.2256G>A | NP_055637.2:p.Thr752= | |
XM_005263379.3:c.2259G>A | XP_005263436.1:p.Thr753= | |
XM_017008875.1:c.924G>A | XP_016864364.1:p.Thr308= | |
XM_024454293.1:c.2256G>A | XP_024310061.1:p.Thr752= | |
NM_014822.4:c.2256G>A MANE Select | NP_055637.2:p.Thr752= | |
NM_001318066.2:c.2259G>A | NP_001304995.1:p.Thr753= |