HGVS | Genome Assembly |
---|---|
NC_000010.11:g.113697518G>A , CM000672.2:g.113697518G>A | GRCh38 |
NC_000010.10:g.115457277G>A , CM000672.1:g.115457277G>A | GRCh37 |
NC_000010.9:g.115447267G>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000369318.8:c.25G>A MANE Select | ENSP00000358324.4:p.Glu9Lys | |
ENST00000345633.8:c.25G>A | ENSP00000298701.7:p.Glu9Lys | |
ENST00000369315.5:c.25G>A | ENSP00000358321.1:p.Glu9Lys | |
ENST00000369318.7:c.25G>A | ENSP00000358324.3:p.Glu9Lys | |
ENST00000369321.6:c.249G>A | ENSP00000358327.3:p.Leu83= | |
ENST00000369331.8:c.25G>A | ENSP00000358337.3:p.Glu9Lys | |
ENST00000429617.5:c.25G>A | ENSP00000400094.1:p.Glu9Lys | |
ENST00000614447.4:c.25G>A | ENSP00000478285.1:p.Glu9Lys | |
ENST00000621345.4:c.25G>A | ENSP00000480584.1:p.Glu9Lys | |
ENST00000621607.4:c.124G>A | ENSP00000478999.1:p.Glu42Lys | |
NM_001227.4:c.25G>A | NP_001218.1:p.Glu9Lys | |
NM_001267056.1:c.25G>A | NP_001253985.1:p.Glu9Lys | |
NM_001267057.1:c.249G>A | NP_001253986.1:p.Leu83= | |
NM_033338.5:c.124G>A | NP_203124.1:p.Glu42Lys | |
NM_033339.4:c.25G>A | NP_203125.1:p.Glu9Lys | |
NM_033340.3:c.25G>A | NP_203126.1:p.Glu9Lys | |
XM_006718017.2:c.36G>A | XP_006718080.1:p.Leu12= | |
XM_006718018.1:c.18G>A | XP_006718081.1:p.Leu6= | |
XM_011540259.1:c.124G>A | XP_011538561.1:p.Glu42Lys | |
NM_001320911.1:c.18G>A | NP_001307840.1:p.Leu6= | |
XM_006718017.3:c.36G>A | XP_006718080.1:p.Leu12= | |
XM_017016763.1:c.82G>A | XP_016872252.1:p.Glu28Lys | |
XM_017016764.1:c.18G>A | XP_016872253.1:p.Leu6= | |
NM_001227.5:c.25G>A MANE Select | NP_001218.1:p.Glu9Lys | |
NM_001320911.2:c.18G>A | NP_001307840.1:p.Leu6= | |
NM_033338.6:c.124G>A | NP_203124.1:p.Glu42Lys | |
NM_033339.5:c.25G>A | NP_203125.1:p.Glu9Lys | |
NM_033340.4:c.25G>A | NP_203126.1:p.Glu9Lys | |
NM_001267056.2:c.25G>A | NP_001253985.1:p.Glu9Lys |