HGVS | Genome Assembly |
---|---|
NC_000006.12:g.32813239C>A , CM000668.2:g.32813239C>A | GRCh38 |
NC_000006.11:g.32781016C>A , CM000668.1:g.32781016C>A | GRCh37 |
NC_000006.10:g.32888994C>A | NCBI36 |
NG_009793.3:g.30532G>T | |
NG_012008.1:g.8810G>T | |
NG_009793.4:g.30532G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000438763.7:c.799G>T MANE Select | ENSP00000390020.2:p.Val267Phe | |
ENST00000648009.1:c.799G>T | ENSP00000496848.1:p.Val267Phe | |
ENST00000438763.6:c.799G>T | ENSP00000390020.2:p.Val267Phe | |
ENST00000475235.1:n.1322G>T | ||
ENST00000488325.5:c.*570G>T | ENSP00000436618.1:n.*570G>T | |
NM_002120.3:c.799G>T | NP_002111.1:p.Val267Phe | |
NM_002120.4:c.799G>T MANE Select | NP_002111.1:p.Val267Phe |