HGVS | Genome Assembly |
---|---|
NC_000006.12:g.49457765C>A , CM000668.2:g.49457765C>A | GRCh38 |
NC_000006.11:g.49425478C>A , CM000668.1:g.49425478C>A | GRCh37 |
NC_000006.10:g.49533437C>A | NCBI36 |
NG_007100.1:g.10375G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000274813.4:c.679G>T MANE Select | ENSP00000274813.3:p.Val227Phe | |
ENST00000274813.3:c.679G>T | ENSP00000274813.3:p.Val227Phe | |
NM_000255.3:c.679G>T | NP_000246.2:p.Val227Phe | |
XM_005249143.2:c.679G>T | XP_005249200.1:p.Val227Phe | |
XM_005249143.3:c.679G>T | XP_005249200.1:p.Val227Phe | |
NM_000255.4:c.679G>T MANE Select | NP_000246.2:p.Val227Phe |