HGVS | Genome Assembly |
---|---|
NC_000005.10:g.45461844A>C , CM000667.2:g.45461844A>C | GRCh38 |
NC_000005.9:g.45461946A>C , CM000667.1:g.45461946A>C | GRCh37 |
NC_000005.8:g.45497703A>C | NCBI36 |
NG_042183.1:g.239275T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000303230.6:c.1011+2T>G MANE Select | ENSP00000307342.4:n.1011+2T>G | |
ENST00000637305.1:n.174+2T>G | ||
ENST00000673735.1:c.1011+2T>G | ENSP00000501107.1:n.1011+2T>G | |
ENST00000303230.5:c.1011+2T>G | ENSP00000307342.4:n.1011+2T>G | |
NM_021072.3:c.1011+2T>G | NP_066550.2:n.1011+2T>G | |
NM_021072.4:c.1011+2T>G MANE Select | NP_066550.2:n.1011+2T>G |