HGVS | Genome Assembly |
---|---|
NC_000010.11:g.70435642C>T , CM000672.2:g.70435642C>T | GRCh38 |
NC_000010.10:g.72195398C>T , CM000672.1:g.72195398C>T | GRCh37 |
NC_000010.9:g.71865404C>T | NCBI36 |
NG_012448.1:g.11068G>A | |
NG_012448.2:g.17307G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000287139.8:c.535G>A MANE Select | ENSP00000287139.3:p.Glu179Lys | |
ENST00000287139.7:c.535G>A | ENSP00000287139.3:p.Glu179Lys | |
ENST00000414871.1:c.370G>A | ENSP00000394468.1:p.Glu124Lys | |
NM_018055.4:c.535G>A | NP_060525.3:p.Glu179Lys | |
NM_001329906.1:c.136G>A | NP_001316835.1:p.Glu46Lys | |
XM_024448028.1:c.136G>A | XP_024303796.1:p.Glu46Lys | |
NM_018055.5:c.535G>A MANE Select | NP_060525.3:p.Glu179Lys | |
NM_001329906.2:c.136G>A | NP_001316835.1:p.Glu46Lys |