HGVS | Genome Assembly |
---|---|
NC_000008.11:g.31141447C>T , CM000670.2:g.31141447C>T | GRCh38 |
NC_000008.10:g.30998963C>T , CM000670.1:g.30998963C>T | GRCh37 |
NC_000008.9:g.31118505C>T | NCBI36 |
NG_008870.1:g.113186C>T , LRG_524:g.113186C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000298139.7:c.2985C>T MANE Select | ENSP00000298139.5:p.Ala995= | |
ENST00000650667.1:c.*2599C>T | ENSP00000498593.1:n.*2599C>T | |
ENST00000298139.5:c.2985C>T | ENSP00000298139.5:p.Ala995= | |
ENST00000521620.5:n.1618C>T | ||
NM_000553.4:c.2985C>T , LRG_524t1:c.2985C>T | NP_000544.2:p.Ala995= | |
XM_011544639.1:c.2904C>T | XP_011542941.1:p.Ala968= | |
XM_011544640.1:c.1386C>T | XP_011542942.1:p.Ala462= | |
XR_949470.1:n.3258C>T | ||
XR_949471.1:n.3258C>T | ||
XR_949472.1:n.3258C>T | ||
NM_000553.5:c.2985C>T | NP_000544.2:p.Ala995= | |
XM_011544639.3:c.2904C>T | XP_011542941.1:p.Ala968= | |
XM_024447265.1:c.2775C>T | XP_024303033.1:p.Ala925= | |
XR_949470.3:n.3286C>T | ||
XR_949471.3:n.3286C>T | ||
XR_949472.3:n.3286C>T | ||
NM_000553.6:c.2985C>T MANE Select | NP_000544.2:p.Ala995= |