HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31271320G>T , CM000668.2:g.31271320G>T | GRCh38 |
NC_000006.11:g.31239097G>T , CM000668.1:g.31239097G>T | GRCh37 |
NC_000006.10:g.31347076G>T | NCBI36 |
NG_029422.2:g.5812C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000376228.10:c.372C>A MANE Select | ENSP00000365402.5:p.Gly124= | |
ENST00000376228.9:c.372C>A | ENSP00000365402.5:p.Gly124= | |
ENST00000376237.8:c.355C>A | ENSP00000365412.4:p.Leu119Met | |
ENST00000383329.7:c.372C>A | ENSP00000372819.3:p.Gly124= | |
ENST00000415537.1:c.370C>A | ||
ENST00000484378.1:n.641C>A | ||
ENST00000487245.5:n.731C>A | ||
ENST00000495835.1:n.561C>A | ||
NM_002117.5:c.372C>A | NP_002108.4:p.Gly124= | |
NM_002117.6:c.372C>A MANE Select | NP_002108.4:p.Gly124= |