HGVS | Genome Assembly |
---|---|
NC_000010.11:g.123053091G>A , CM000672.2:g.123053091G>A | GRCh38 |
NC_000010.10:g.124812607G>A , CM000672.1:g.124812607G>A | GRCh37 |
NC_000010.9:g.124802597G>A | NCBI36 |
NG_008003.1:g.49179G>A , LRG_451:g.49179G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000358776.7:c.1159G>A MANE Select | ENSP00000357873.3:p.Glu387Lys | |
ENST00000358776.6:c.1159G>A | ENSP00000357873.3:p.Glu387Lys | |
ENST00000368869.8:c.853G>A | ENSP00000357862.4:p.Glu285Lys | |
ENST00000541070.1:n.331G>A | ||
NM_001609.3:c.1159G>A , LRG_451t1:c.1159G>A | NP_001600.1:p.Glu387Lys | |
NM_001330174.1:c.853G>A | NP_001317103.1:p.Glu285Lys | |
NM_001330174.2:c.853G>A | NP_001317103.1:p.Glu285Lys | |
NM_001609.4:c.1159G>A MANE Select | NP_001600.1:p.Glu387Lys | |
NM_001330174.3:c.853G>A | NP_001317103.1:p.Glu285Lys |