HGVS | Genome Assembly |
---|---|
NC_000008.11:g.31147397C>A , CM000670.2:g.31147397C>A | GRCh38 |
NC_000008.10:g.31004913C>A , CM000670.1:g.31004913C>A | GRCh37 |
NC_000008.9:g.31124455C>A | NCBI36 |
NG_008870.1:g.119136C>A , LRG_524:g.119136C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000298139.7:c.3493C>A MANE Select | ENSP00000298139.5:p.Gln1165Lys | |
ENST00000650667.1:c.*3107C>A | ENSP00000498593.1:n.*3107C>A | |
ENST00000298139.5:c.3493C>A | ENSP00000298139.5:p.Gln1165Lys | |
ENST00000521620.5:n.2126C>A | ||
NM_000553.4:c.3493C>A , LRG_524t1:c.3493C>A | NP_000544.2:p.Gln1165Lys | |
XM_011544639.1:c.3412C>A | XP_011542941.1:p.Gln1138Lys | |
XM_011544640.1:c.1894C>A | XP_011542942.1:p.Gln632Lys | |
XR_949470.1:n.3766C>A | ||
XR_949471.1:n.3766C>A | ||
XR_949472.1:n.3766C>A | ||
XR_949643.1:n.614+1111G>T | ||
NM_000553.5:c.3493C>A | NP_000544.2:p.Gln1165Lys | |
XM_011544639.3:c.3412C>A | XP_011542941.1:p.Gln1138Lys | |
XM_024447265.1:c.3283C>A | XP_024303033.1:p.Gln1095Lys | |
XR_949470.3:n.3794C>A | ||
XR_949471.3:n.3794C>A | ||
XR_949472.3:n.3794C>A | ||
NM_000553.6:c.3493C>A MANE Select | NP_000544.2:p.Gln1165Lys |