HGVS | Genome Assembly |
---|---|
NC_000014.9:g.91273353C>A , CM000676.2:g.91273353C>A | GRCh38 |
NC_000014.8:g.91739697C>A , CM000676.1:g.91739697C>A | GRCh37 |
NC_000014.7:g.90809450C>A | NCBI36 |
NG_033118.1:g.149492G>T | |
NG_033118.2:g.149492G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000389857.11:c.5359G>T MANE Select | ENSP00000374507.6:p.Val1787Leu | |
ENST00000331194.8:c.924+7G>T | ENSP00000330332.8:n.924+7G>T | |
ENST00000389857.10:c.5359G>T | ENSP00000374507.6:p.Val1787Leu | |
ENST00000556726.5:c.1587G>T | ||
NM_001080414.3:c.5359G>T | NP_001073883.2:p.Val1787Leu | |
XM_011536796.1:c.5251G>T | XP_011535098.1:p.Val1751Leu | |
XM_011536796.2:c.5251G>T | XP_011535098.1:p.Val1751Leu | |
XM_017021336.1:c.2440G>T | XP_016876825.1:p.Val814Leu | |
NM_001080414.4:c.5359G>T MANE Select | NP_001073883.2:p.Val1787Leu |