HGVS | Genome Assembly |
---|---|
NC_000005.10:g.45461848C>T , CM000667.2:g.45461848C>T | GRCh38 |
NC_000005.9:g.45461950C>T , CM000667.1:g.45461950C>T | GRCh37 |
NC_000005.8:g.45497707C>T | NCBI36 |
NG_042183.1:g.239271G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000303230.6:c.1009G>A MANE Select | ENSP00000307342.4:p.Val337Ile | |
ENST00000637305.1:n.172G>A | ||
ENST00000673735.1:c.1009G>A | ENSP00000501107.1:p.Val337Ile | |
ENST00000303230.5:c.1009G>A | ENSP00000307342.4:p.Val337Ile | |
NM_021072.3:c.1009G>A | NP_066550.2:p.Val337Ile | |
NM_021072.4:c.1009G>A MANE Select | NP_066550.2:p.Val337Ile |