HGVS | Genome Assembly |
---|---|
NC_000008.11:g.31091879G>A , CM000670.2:g.31091879G>A | GRCh38 |
NC_000008.10:g.30949395G>A , CM000670.1:g.30949395G>A | GRCh37 |
NC_000008.9:g.31068937G>A | NCBI36 |
NG_008870.1:g.63618G>A , LRG_524:g.63618G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000298139.7:c.1879G>A MANE Select | ENSP00000298139.5:p.Val627Ile | |
ENST00000650667.1:c.*1493G>A | ENSP00000498593.1:n.*1493G>A | |
ENST00000298139.5:c.1879G>A | ENSP00000298139.5:p.Val627Ile | |
ENST00000521620.5:n.512G>A | ||
NM_000553.4:c.1879G>A , LRG_524t1:c.1879G>A | NP_000544.2:p.Val627Ile | |
XM_011544639.1:c.1798G>A | XP_011542941.1:p.Val600Ile | |
XM_011544640.1:c.280G>A | XP_011542942.1:p.Val94Ile | |
XR_949470.1:n.2152G>A | ||
XR_949471.1:n.2152G>A | ||
XR_949472.1:n.2152G>A | ||
NM_000553.5:c.1879G>A | NP_000544.2:p.Val627Ile | |
XM_011544639.3:c.1798G>A | XP_011542941.1:p.Val600Ile | |
XM_024447265.1:c.1669G>A | XP_024303033.1:p.Val557Ile | |
XR_949470.3:n.2180G>A | ||
XR_949471.3:n.2180G>A | ||
XR_949472.3:n.2180G>A | ||
NM_000553.6:c.1879G>A MANE Select | NP_000544.2:p.Val627Ile |