HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31271124C>T , CM000668.2:g.31271124C>T | GRCh38 |
NC_000006.11:g.31238901C>T , CM000668.1:g.31238901C>T | GRCh37 |
NC_000006.10:g.31346880C>T | NCBI36 |
NG_029422.2:g.6008G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000376228.10:c.568G>A MANE Select | ENSP00000365402.5:p.Glu190Lys | |
ENST00000376228.9:c.568G>A | ENSP00000365402.5:p.Glu190Lys | |
ENST00000376237.8:c.*155G>A | ENSP00000365412.4:n.*155G>A | |
ENST00000383329.7:c.568G>A | ENSP00000372819.3:p.Glu190Lys | |
ENST00000415537.1:c.566G>A | ||
ENST00000484378.1:n.837G>A | ||
ENST00000487245.5:n.927G>A | ||
ENST00000495835.1:n.757G>A | ||
NM_002117.5:c.568G>A | NP_002108.4:p.Glu190Lys | |
NM_002117.6:c.568G>A MANE Select | NP_002108.4:p.Glu190Lys |