HGVS | Genome Assembly |
---|---|
NC_000014.9:g.31394052C>T , CM000676.2:g.31394052C>T | GRCh38 |
NC_000014.8:g.31863258C>T , CM000676.1:g.31863258C>T | GRCh37 |
NC_000014.7:g.30933009C>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000543095.7:c.772G>A MANE Select | ENSP00000437968.2:p.Ala258Thr | |
ENST00000543095.6:c.772G>A | ENSP00000437968.2:p.Ala258Thr | |
ENST00000549185.5:c.*868G>A | ENSP00000446654.1:n.*868G>A | |
NM_015473.3:c.772G>A | NP_056288.2:p.Ala258Thr | |
NM_015473.4:c.772G>A MANE Select | NP_056288.2:p.Ala258Thr |