HGVS | Genome Assembly |
---|---|
NC_000008.11:g.31124910T>G , CM000670.2:g.31124910T>G | GRCh38 |
NC_000008.10:g.30982426T>G , CM000670.1:g.30982426T>G | GRCh37 |
NC_000008.9:g.31101968T>G | NCBI36 |
NG_008870.1:g.96649T>G , LRG_524:g.96649T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000298139.7:c.2735T>G MANE Select | ENSP00000298139.5:p.Ile912Ser | |
ENST00000650667.1:c.*2349T>G | ENSP00000498593.1:n.*2349T>G | |
ENST00000298139.5:c.2735T>G | ENSP00000298139.5:p.Ile912Ser | |
ENST00000520169.1:n.574T>G | ||
ENST00000521620.5:n.1368T>G | ||
NM_000553.4:c.2735T>G , LRG_524t1:c.2735T>G | NP_000544.2:p.Ile912Ser | |
XM_011544639.1:c.2654T>G | XP_011542941.1:p.Ile885Ser | |
XM_011544640.1:c.1136T>G | XP_011542942.1:p.Ile379Ser | |
XR_949470.1:n.3008T>G | ||
XR_949471.1:n.3008T>G | ||
XR_949472.1:n.3008T>G | ||
NM_000553.5:c.2735T>G | NP_000544.2:p.Ile912Ser | |
XM_011544639.3:c.2654T>G | XP_011542941.1:p.Ile885Ser | |
XM_024447265.1:c.2525T>G | XP_024303033.1:p.Ile842Ser | |
XR_949470.3:n.3036T>G | ||
XR_949471.3:n.3036T>G | ||
XR_949472.3:n.3036T>G | ||
NM_000553.6:c.2735T>G MANE Select | NP_000544.2:p.Ile912Ser |